Canonical Allele Identifier: CA1603608734

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404011_177404013delinsACT , CM000667.2:g.177404011_177404013delinsACT	GRCh38
NC_000005.9:g.176831012_176831014delinsACT , CM000667.1:g.176831012_176831014delinsACT	GRCh37
NC_000005.8:g.176763618_176763620delinsACT	NCBI36
NG_007568.1:g.10564_10566delinsAGT , LRG_145:g.10564_10566delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*762_*764delinsAGT (F12)	ENSP00000512476.1:n.*762_*764delinsAGT
ENST00000696193.1:c.*1483_*1485delinsAGT (F12)	ENSP00000512477.1:n.*1483_*1485delinsAGT
ENST00000696194.1:c.*686_*688delinsAGT (F12)	ENSP00000512478.1:n.*686_*688delinsAGT
ENST00000696195.1:n.3899_3901delinsAGT (F12)
ENST00000696200.1:n.1199_1201delinsAGT (F12)
ENST00000696201.1:c.1096_1098delinsAGT (F12)	ENSP00000512482.1:p.Ser366=
ENST00000253496.4:c.1096_1098delinsAGT (F12) MANE Select	ENSP00000253496.3:p.Ser366=
ENST00000253496.3:c.1096_1098delinsAGT (F12)	ENSP00000253496.3:p.Ser366=
ENST00000502598.5:c.-45+485_-45+487delinsACT (GRK6)	ENSP00000422873.1:n.-45+485_-45+487delinsACT
ENST00000502854.5:n.355_357delinsAGT (F12)
ENST00000503736.1:n.468_470delinsAGT (F12)
ENST00000510358.5:n.460_462delinsAGT (F12)
NM_000505.3:c.1096_1098delinsAGT , LRG_145t1:c.1096_1098delinsAGT (F12)	NP_000496.2:p.Ser366=
XM_011534461.1:c.1096_1098delinsAGT (F12)	XP_011532763.1:p.Ser366=
XM_011534462.1:c.760_762delinsAGT (F12)	XP_011532764.1:p.Ser254=
XM_011534462.2:c.760_762delinsAGT (F12)	XP_011532764.1:p.Ser254=
XM_017009773.2:c.1416+6937_1416+6939delinsACT (SLC34A1)	XP_016865262.1:n.1416+6937_1416+6939delinsACT
NM_000505.4:c.1096_1098delinsAGT (F12) MANE Select	NP_000496.2:p.Ser366=