Canonical Allele Identifier: CA2633370644

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56869972-ATGGCCTCAGCTATCTCCTGCCCCGTGGGTCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869978_56870010del , CM000678.2:g.56869978_56870010del	GRCh38
NC_000016.9:g.56903890_56903922del , CM000678.1:g.56903890_56903922del	GRCh37
NC_000016.8:g.55461391_55461423del	NCBI36
NG_009386.1:g.9772_9804del
NG_009386.2:g.9772_9804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.602-118_602-86del MANE Select	ENSP00000456149.2:n.602-118_602-86del
ENST00000262502.5:c.599-118_599-86del	ENSP00000262502.5:n.599-118_599-86del
ENST00000438926.6:c.602-118_602-86del	ENSP00000402152.2:n.602-118_602-86del
ENST00000563236.5:c.602-118_602-86del	ENSP00000456149.1:n.602-118_602-86del
ENST00000566786.5:c.599-118_599-86del	ENSP00000457552.1:n.599-118_599-86del
NM_000339.2:c.602-118_602-86del	NP_000330.2:n.602-118_602-86del
NM_001126107.1:c.599-118_599-86del	NP_001119579.1:n.599-118_599-86del
NM_001126108.1:c.602-118_602-86del	NP_001119580.1:n.602-118_602-86del
XM_005256119.1:c.599-118_599-86del	XP_005256176.1:n.599-118_599-86del
XM_005256119.2:c.599-118_599-86del	XP_005256176.1:n.599-118_599-86del
NM_000339.3:c.602-118_602-86del	NP_000330.3:n.602-118_602-86del
NM_001126107.2:c.599-118_599-86del	NP_001119579.2:n.599-118_599-86del
NM_001126108.2:c.602-118_602-86del MANE Select	NP_001119580.2:n.602-118_602-86del