Canonical Allele Identifier: CA2676715349

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403953-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403956_177403957dup , CM000667.2:g.177403956_177403957dup	GRCh38
NC_000005.9:g.176830957_176830958dup , CM000667.1:g.176830957_176830958dup	GRCh37
NC_000005.8:g.176763563_176763564dup	NCBI36
NG_007568.1:g.10622_10623dup , LRG_145:g.10622_10623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*820_*821dup (F12)	ENSP00000512476.1:n.*820_*821dup
ENST00000696193.1:c.*1541_*1542dup (F12)	ENSP00000512477.1:n.*1541_*1542dup
ENST00000696194.1:c.*744_*745dup (F12)	ENSP00000512478.1:n.*744_*745dup
ENST00000696195.1:n.3957_3958dup (F12)
ENST00000696200.1:n.1257_1258dup (F12)
ENST00000696201.1:c.1154_1155dup (F12)	ENSP00000512482.1:p.Tyr386ProfsTer24
ENST00000253496.4:c.1154_1155dup (F12) MANE Select	ENSP00000253496.3:p.Tyr386ProfsTer24
ENST00000253496.3:c.1154_1155dup (F12)	ENSP00000253496.3:p.Tyr386ProfsTer24
ENST00000502598.5:c.-45+430_-45+431dup (GRK6)	ENSP00000422873.1:n.-45+430_-45+431dup
ENST00000502854.5:n.413_414dup (F12)
ENST00000503736.1:n.526_527dup (F12)
ENST00000510358.5:n.518_519dup (F12)
NM_000505.3:c.1154_1155dup , LRG_145t1:c.1154_1155dup (F12)	NP_000496.2:p.Tyr386ProfsTer24
XM_011534461.1:c.1154_1155dup (F12)	XP_011532763.1:p.Tyr386ProfsTer24
XM_011534462.1:c.818_819dup (F12)	XP_011532764.1:p.Tyr274ProfsTer24
XM_011534462.2:c.818_819dup (F12)	XP_011532764.1:p.Tyr274ProfsTer24
XM_017009773.2:c.1416+6882_1416+6883dup (SLC34A1)	XP_016865262.1:n.1416+6882_1416+6883dup
NM_000505.4:c.1154_1155dup (F12) MANE Select	NP_000496.2:p.Tyr386ProfsTer24