Canonical Allele Identifier: CA2740710279

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403653_177403654insGTGAAGCAGGAGGGTCTG , CM000667.2:g.177403653_177403654insGTGAAGCAGGAGGGTCTG	GRCh38
NC_000005.9:g.176830654_176830655insGTGAAGCAGGAGGGTCTG , CM000667.1:g.176830654_176830655insGTGAAGCAGGAGGGTCTG	GRCh37
NC_000005.8:g.176763260_176763261insGTGAAGCAGGAGGGTCTG	NCBI36
NG_007568.1:g.10923_10924insCAGACCCTCCTGCTTCAC , LRG_145:g.10923_10924insCAGACCCTCCTGCTTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-37_*917-36insCAGACCCTCCTGCTTCAC (F12)	ENSP00000512476.1:n.*917-37_*917-36insCAGACCCTCCTGCTTCAC
ENST00000696193.1:c.*1638-37_*1638-36insCAGACCCTCCTGCTTCAC (F12)	ENSP00000512477.1:n.*1638-37_*1638-36insCAGACCCTCCTGCTTCAC
ENST00000696194.1:c.*841-37_*841-36insCAGACCCTCCTGCTTCAC (F12)	ENSP00000512478.1:n.*841-37_*841-36insCAGACCCTCCTGCTTCAC
ENST00000696195.1:n.4054-37_4054-36insCAGACCCTCCTGCTTCAC (F12)
ENST00000696200.1:n.1558_1559insCAGACCCTCCTGCTTCAC (F12)
ENST00000696201.1:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12)	ENSP00000512482.1:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC
ENST00000253496.4:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12) MANE Select	ENSP00000253496.3:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC
ENST00000253496.3:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12)	ENSP00000253496.3:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC
ENST00000502598.5:c.-45+127_-45+128insGTGAAGCAGGAGGGTCTG (GRK6)	ENSP00000422873.1:n.-45+127_-45+128insGTGAAGCAGGAGGGTCTG
ENST00000502854.5:n.714_715insCAGACCCTCCTGCTTCAC (F12)
ENST00000503736.1:n.623-37_623-36insCAGACCCTCCTGCTTCAC (F12)
ENST00000504406.5:n.97_98insCAGACCCTCCTGCTTCAC (F12)
ENST00000510358.5:n.819_820insCAGACCCTCCTGCTTCAC (F12)
NM_000505.3:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC , LRG_145t1:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12)	NP_000496.2:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC
XM_011534461.1:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12)	XP_011532763.1:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC
XM_011534462.1:c.915-37_915-36insCAGACCCTCCTGCTTCAC (F12)	XP_011532764.1:n.915-37_915-36insCAGACCCTCCTGCTTCAC
XM_011534462.2:c.915-37_915-36insCAGACCCTCCTGCTTCAC (F12)	XP_011532764.1:n.915-37_915-36insCAGACCCTCCTGCTTCAC
XM_017009773.2:c.1416+6579_1416+6580insGTGAAGCAGGAGGGTCTG (SLC34A1)	XP_016865262.1:n.1416+6579_1416+6580insGTGAAGCAGGAGGGTCTG
NM_000505.4:c.1251-37_1251-36insCAGACCCTCCTGCTTCAC (F12) MANE Select	NP_000496.2:n.1251-37_1251-36insCAGACCCTCCTGCTTCAC