Canonical Allele Identifier: CA2677596674

Gene: SLC17A2

Linked Data

• gnomAD v4: 6-25918528-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25918530del , CM000668.2:g.25918530del	GRCh38
NC_000006.11:g.25918758del , CM000668.1:g.25918758del	GRCh37
NC_000006.10:g.26026737del	NCBI36
NG_034000.1:g.17198del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377850.8:c.607del MANE Select	ENSP00000367081.3:p.Ile203SerfsTer5
ENST00000265425.3:c.607del	ENSP00000265425.3:p.Ile203SerfsTer5
ENST00000360488.7:c.607del	ENSP00000353677.3:p.Ile203SerfsTer5
ENST00000377850.7:c.607del	ENSP00000367081.3:p.Ile203SerfsTer5
NM_001286123.1:c.607del	NP_001273052.1:p.Ile203SerfsTer5
NM_001286125.1:c.607del	NP_001273054.1:p.Ile203SerfsTer5
NM_005835.3:c.607del	NP_005826.1:p.Ile203SerfsTer5
XM_005248784.2:c.607del	XP_005248841.1:p.Ile203SerfsTer5
XM_006714949.2:c.607del	XP_006715012.1:p.Ile203SerfsTer5
XM_006714950.1:c.538del	XP_006715013.1:p.Ile180SerfsTer5
XM_006714951.1:c.607del	XP_006715014.1:p.Ile203SerfsTer5
XM_011514227.1:c.607del	XP_011512529.1:p.Ile203SerfsTer5
XM_006714949.3:c.607del	XP_006715012.1:p.Ile203SerfsTer5
XM_006714950.2:c.538del	XP_006715013.1:p.Ile180SerfsTer5
XM_017010159.1:c.538del	XP_016865648.1:p.Ile180SerfsTer5
XM_017010160.1:c.607del	XP_016865649.1:p.Ile203SerfsTer5
NM_001286123.3:c.607del MANE Select	NP_001273052.1:p.Ile203SerfsTer5
NM_001286125.2:c.607del	NP_001273054.1:p.Ile203SerfsTer5
NM_005835.4:c.607del	NP_005826.1:p.Ile203SerfsTer5