Canonical Allele Identifier: CA242441954

Gene: MYBPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101652544_101652545del , CM000674.2:g.101652544_101652545del	GRCh38
NC_000012.11:g.102046322_102046323del , CM000674.1:g.102046322_102046323del	GRCh37
NC_000012.10:g.100570453_100570454del	NCBI36
NG_031912.1:g.62614_62615del

Transcript Alleles

HGVS	Amino-acid Change
NM_002465.4:c.1527-134_1527-133del MANE Select	NP_002456.2:n.1527-134_1527-133del
ENST00000361466.7:c.1527-134_1527-133del MANE Select	ENSP00000354849.2:n.1527-134_1527-133del
NM_001254718.1:c.1452-134_1452-133del	NP_001241647.1:n.1452-134_1452-133del
NM_001254718.2:c.1452-134_1452-133del	NP_001241647.1:n.1452-134_1452-133del
NM_001254719.1:c.1452-134_1452-133del	NP_001241648.1:n.1452-134_1452-133del
NM_001254719.2:c.1452-134_1452-133del	NP_001241648.1:n.1452-134_1452-133del
NM_001254720.1:c.1416-134_1416-133del	NP_001241649.1:n.1416-134_1416-133del
NM_001254720.2:c.1416-134_1416-133del	NP_001241649.1:n.1416-134_1416-133del
NM_001254721.1:c.1395-134_1395-133del	NP_001241650.1:n.1395-134_1395-133del
NM_001254721.2:c.1395-134_1395-133del	NP_001241650.1:n.1395-134_1395-133del
NM_001254722.1:c.1374-134_1374-133del	NP_001241651.1:n.1374-134_1374-133del
NM_001254722.2:c.1374-134_1374-133del	NP_001241651.1:n.1374-134_1374-133del
NM_001254723.1:c.1413-134_1413-133del	NP_001241652.1:n.1413-134_1413-133del
NM_001254723.2:c.1413-134_1413-133del	NP_001241652.1:n.1413-134_1413-133del
NM_002465.3:c.1527-134_1527-133del	NP_002456.2:n.1527-134_1527-133del
NM_206819.2:c.1527-134_1527-133del	NP_996555.1:n.1527-134_1527-133del
NM_206819.3:c.1527-134_1527-133del	NP_996555.1:n.1527-134_1527-133del
NM_206820.2:c.1452-134_1452-133del	NP_996556.1:n.1452-134_1452-133del
NM_206820.3:c.1452-134_1452-133del	NP_996556.1:n.1452-134_1452-133del
NM_206821.2:c.1452-134_1452-133del	NP_996557.1:n.1452-134_1452-133del
NM_206821.3:c.1452-134_1452-133del	NP_996557.1:n.1452-134_1452-133del
ENST00000361466.6:c.1527-134_1527-133del	ENSP00000354849.2:n.1527-134_1527-133del
ENST00000361685.6:c.1527-134_1527-133del	ENSP00000354845.2:n.1527-134_1527-133del
ENST00000392934.7:c.1413-134_1413-133del	ENSP00000376665.3:n.1413-134_1413-133del
ENST00000441232.5:c.1527-134_1527-133del	ENSP00000388989.3:n.1527-134_1527-133del
ENST00000452455.6:c.1452-134_1452-133del	ENSP00000400908.2:n.1452-134_1452-133del
ENST00000536007.5:c.1395-134_1395-133del	ENSP00000446128.1:n.1395-134_1395-133del
ENST00000541119.5:c.1416-134_1416-133del	ENSP00000442847.1:n.1416-134_1416-133del
ENST00000545503.6:c.1452-134_1452-133del	ENSP00000440034.2:n.1452-134_1452-133del
ENST00000547405.5:c.1374-134_1374-133del	ENSP00000448175.1:n.1374-134_1374-133del
ENST00000547509.5:c.1410-134_1410-133del	ENSP00000447362.1:n.1410-134_1410-133del
ENST00000549145.5:c.1491-134_1491-133del	ENSP00000447660.1:n.1491-134_1491-133del
ENST00000550270.1:c.1452-134_1452-133del	ENSP00000449702.1:n.1452-134_1452-133del
ENST00000550501.3:n.575-30060_575-30059del
ENST00000551300.5:c.1155-134_1155-133del	ENSP00000447116.1:n.1155-134_1155-133del
ENST00000553190.5:c.1452-134_1452-133del	ENSP00000447900.1:n.1452-134_1452-133del
XM_005268876.3:c.1491-134_1491-133del	XP_005268933.1:n.1491-134_1491-133del
XM_005268876.4:c.1491-134_1491-133del	XP_005268933.1:n.1491-134_1491-133del
XM_006719405.2:c.1527-134_1527-133del	XP_006719468.1:n.1527-134_1527-133del
XM_006719405.4:c.1527-134_1527-133del	XP_006719468.1:n.1527-134_1527-133del
XM_006719406.2:c.1527-134_1527-133del	XP_006719469.1:n.1527-134_1527-133del
XM_006719406.4:c.1527-134_1527-133del	XP_006719469.1:n.1527-134_1527-133del
XM_006719407.2:c.1491-134_1491-133del	XP_006719470.1:n.1491-134_1491-133del
XM_006719407.3:c.1491-134_1491-133del	XP_006719470.1:n.1491-134_1491-133del
XM_006719408.2:c.1527-134_1527-133del	XP_006719471.1:n.1527-134_1527-133del
XM_006719408.4:c.1527-134_1527-133del	XP_006719471.1:n.1527-134_1527-133del
XM_006719409.2:c.1452-134_1452-133del	XP_006719472.1:n.1452-134_1452-133del
XM_006719409.3:c.1452-134_1452-133del	XP_006719472.1:n.1452-134_1452-133del
XM_006719410.2:c.1527-134_1527-133del	XP_006719473.1:n.1527-134_1527-133del
XM_006719410.4:c.1527-134_1527-133del	XP_006719473.1:n.1527-134_1527-133del
XM_006719411.2:c.1452-134_1452-133del	XP_006719474.1:n.1452-134_1452-133del
XM_006719411.3:c.1452-134_1452-133del	XP_006719474.1:n.1452-134_1452-133del
XM_017019315.2:c.1470-134_1470-133del	XP_016874804.1:n.1470-134_1470-133del
XM_017019316.2:c.1527-134_1527-133del	XP_016874805.1:n.1527-134_1527-133del
XM_017019317.1:c.1452-134_1452-133del	XP_016874806.1:n.1452-134_1452-133del
XM_017019318.2:c.1470-134_1470-133del	XP_016874807.1:n.1470-134_1470-133del
XM_017019319.2:c.1395-134_1395-133del	XP_016874808.1:n.1395-134_1395-133del
XM_017019320.1:c.1374-134_1374-133del	XP_016874809.1:n.1374-134_1374-133del
XM_017019321.2:c.1395-134_1395-133del	XP_016874810.1:n.1395-134_1395-133del
XM_017019322.1:c.1317-134_1317-133del	XP_016874811.1:n.1317-134_1317-133del