Canonical Allele Identifier: CA2633371018

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870126-TGGGCCCAGAGCTTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870131_56870145del , CM000678.2:g.56870131_56870145del	GRCh38
NC_000016.9:g.56904043_56904057del , CM000678.1:g.56904043_56904057del	GRCh37
NC_000016.8:g.55461544_55461558del	NCBI36
NG_009386.1:g.9925_9939del
NG_009386.2:g.9925_9939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.637_651del MANE Select	ENSP00000456149.2:p.Pro213_Gly217del
ENST00000262502.5:c.634_648del	ENSP00000262502.5:p.Pro212_Gly216del
ENST00000438926.6:c.637_651del	ENSP00000402152.2:p.Pro213_Gly217del
ENST00000563236.5:c.637_651del	ENSP00000456149.1:p.Pro213_Gly217del
ENST00000566786.5:c.634_648del	ENSP00000457552.1:p.Pro212_Gly216del
NM_000339.2:c.637_651del	NP_000330.2:p.Pro213_Gly217del
NM_001126107.1:c.634_648del	NP_001119579.1:p.Pro212_Gly216del
NM_001126108.1:c.637_651del	NP_001119580.1:p.Pro213_Gly217del
XM_005256119.1:c.634_648del	XP_005256176.1:p.Pro212_Gly216del
XM_005256119.2:c.634_648del	XP_005256176.1:p.Pro212_Gly216del
NM_000339.3:c.637_651del	NP_000330.3:p.Pro213_Gly217del
NM_001126107.2:c.634_648del	NP_001119579.2:p.Pro212_Gly216del
NM_001126108.2:c.637_651del MANE Select	NP_001119580.2:p.Pro213_Gly217del