Canonical Allele Identifier: CA607148255
Community Standard Title: NM_002465.4(MYBPC1):c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
Gene: MYBPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101659946_101659947insGCCTAGAGGACTTTTTTTTTGT , CM000674.2:g.101659946_101659947insGCCTAGAGGACTTTTTTTTTGT GRCh38
NC_000012.11:g.102053724_102053725insGCCTAGAGGACTTTTTTTTTGT , CM000674.1:g.102053724_102053725insGCCTAGAGGACTTTTTTTTTGT GRCh37
NC_000012.10:g.100577855_100577856insGCCTAGAGGACTTTTTTTTTGT NCBI36
NG_031912.1:g.70016_70017insGCCTAGAGGACTTTTTTTTTGT

Transcript Alleles

HGVS Amino-acid Change
NM_002465.4:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT MANE Select NP_002456.2:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
ENST00000361466.7:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT MANE Select ENSP00000354849.2:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTG...
NM_001254718.1:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_001241647.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254718.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_001241647.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254719.1:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_001241648.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254719.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_001241648.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254720.1:c.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTGT NP_001241649.1:n.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254720.2:c.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTGT NP_001241649.1:n.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254721.1:c.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT NP_001241650.1:n.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254721.2:c.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT NP_001241650.1:n.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254722.1:c.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT NP_001241651.1:n.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254722.2:c.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT NP_001241651.1:n.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254723.1:c.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTGT NP_001241652.1:n.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTGT
NM_001254723.2:c.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTGT NP_001241652.1:n.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTGT
NM_002465.3:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT NP_002456.2:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
NM_206819.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT NP_996555.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
NM_206819.3:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT NP_996555.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
NM_206820.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_996556.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_206820.3:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_996556.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_206821.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_996557.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
NM_206821.3:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT NP_996557.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
ENST00000361466.6:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000354849.2:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000361685.6:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000354845.2:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000392934.7:c.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000376665.3:n.1813+115_1813+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000441232.5:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000388989.3:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000452455.6:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000400908.2:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000536007.5:c.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000446128.1:n.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000541119.5:c.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000442847.1:n.1816+115_1816+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000545503.6:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000440034.2:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000547405.5:c.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000448175.1:n.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000547509.5:c.1810+115_1810+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000447362.1:n.1810+115_1810+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000549145.5:c.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000447660.1:n.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000550270.1:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000449702.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000550501.3:n.575-22658_575-22657insGCCTAGAGGACTTTTTTTTTGT
ENST00000551300.5:c.1555+115_1555+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000447116.1:n.1555+115_1555+116insGCCTAGAGGACTTTTTTTTTG...
ENST00000553190.5:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT ENSP00000447900.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTG...
XM_005268876.3:c.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT XP_005268933.1:n.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT
XM_005268876.4:c.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT XP_005268933.1:n.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719405.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719468.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719405.4:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719468.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719406.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719469.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719406.4:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719469.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719407.2:c.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT XP_006719470.1:n.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719407.3:c.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT XP_006719470.1:n.1891+115_1891+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719408.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719471.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719408.4:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719471.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719409.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT XP_006719472.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719409.3:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT XP_006719472.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719410.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719473.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719410.4:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_006719473.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719411.2:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT XP_006719474.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
XM_006719411.3:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT XP_006719474.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019315.2:c.1870+115_1870+116insGCCTAGAGGACTTTTTTTTTGT XP_016874804.1:n.1870+115_1870+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019316.2:c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT XP_016874805.1:n.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019317.1:c.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT XP_016874806.1:n.1852+115_1852+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019318.2:c.1870+115_1870+116insGCCTAGAGGACTTTTTTTTTGT XP_016874807.1:n.1870+115_1870+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019319.2:c.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT XP_016874808.1:n.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019320.1:c.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT XP_016874809.1:n.1774+115_1774+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019321.2:c.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT XP_016874810.1:n.1795+115_1795+116insGCCTAGAGGACTTTTTTTTTGT
XM_017019322.1:c.1717+115_1717+116insGCCTAGAGGACTTTTTTTTTGT XP_016874811.1:n.1717+115_1717+116insGCCTAGAGGACTTTTTTTTTGT
XR_945262.1:n.894_895insCAAAAAAAAAGTCCTCTAGGCA
XR_945263.1:n.881_882insCAAAAAAAAAGTCCTCTAGGCA