Canonical Allele Identifier: CA2676710855

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404004-AAGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404009_177404012del , CM000667.2:g.177404009_177404012del	GRCh38
NC_000005.9:g.176831010_176831013del , CM000667.1:g.176831010_176831013del	GRCh37
NC_000005.8:g.176763616_176763619del	NCBI36
NG_007568.1:g.10569_10572del , LRG_145:g.10569_10572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*767_*770del (F12)	ENSP00000512476.1:n.*767_*770del
ENST00000696193.1:c.*1488_*1491del (F12)	ENSP00000512477.1:n.*1488_*1491del
ENST00000696194.1:c.*691_*694del (F12)	ENSP00000512478.1:n.*691_*694del
ENST00000696195.1:n.3904_3907del (F12)
ENST00000696200.1:n.1204_1207del (F12)
ENST00000696201.1:c.1101_1104del (F12)	ENSP00000512482.1:p.Ser368ArgfsTer2
ENST00000253496.4:c.1101_1104del (F12) MANE Select	ENSP00000253496.3:p.Ser368ArgfsTer2
ENST00000253496.3:c.1101_1104del (F12)	ENSP00000253496.3:p.Ser368ArgfsTer2
ENST00000502598.5:c.-45+483_-45+486del (GRK6)	ENSP00000422873.1:n.-45+483_-45+486del
ENST00000502854.5:n.360_363del (F12)
ENST00000503736.1:n.473_476del (F12)
ENST00000510358.5:n.465_468del (F12)
NM_000505.3:c.1101_1104del , LRG_145t1:c.1101_1104del (F12)	NP_000496.2:p.Ser368ArgfsTer2
XM_011534461.1:c.1101_1104del (F12)	XP_011532763.1:p.Ser368ArgfsTer2
XM_011534462.1:c.765_768del (F12)	XP_011532764.1:p.Ser256ArgfsTer2
XM_011534462.2:c.765_768del (F12)	XP_011532764.1:p.Ser256ArgfsTer2
XM_017009773.2:c.1416+6935_1416+6938del (SLC34A1)	XP_016865262.1:n.1416+6935_1416+6938del
NM_000505.4:c.1101_1104del (F12) MANE Select	NP_000496.2:p.Ser368ArgfsTer2