Canonical Allele Identifier: CA622342431

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1298704487
• gnomAD v2: 16-56938165-ACT-A
• gnomAD v4: 16-56904253-ACT-A
• MyVariant Identifiers: chr16:g.56938166_56938167del (hg19) ; chr16:g.56904254_56904255del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904256_56904257del , CM000678.2:g.56904256_56904257del	GRCh38
NC_000016.9:g.56938168_56938169del , CM000678.1:g.56938168_56938169del	GRCh37
NC_000016.8:g.55495669_55495670del	NCBI36
NG_009386.1:g.44050_44051del
NG_009386.2:g.44050_44051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2857-139_2857-138del MANE Select	ENSP00000456149.2:n.2857-139_2857-138del
ENST00000262502.5:c.2854-139_2854-138del	ENSP00000262502.5:n.2854-139_2854-138del
ENST00000438926.6:c.2884-139_2884-138del	ENSP00000402152.2:n.2884-139_2884-138del
ENST00000563236.5:c.2857-139_2857-138del	ENSP00000456149.1:n.2857-139_2857-138del
ENST00000566786.5:c.2881-139_2881-138del	ENSP00000457552.1:n.2881-139_2881-138del
ENST00000569002.1:n.288-139_288-138del
NM_000339.2:c.2884-139_2884-138del	NP_000330.2:n.2884-139_2884-138del
NM_001126107.1:c.2881-139_2881-138del	NP_001119579.1:n.2881-139_2881-138del
NM_001126108.1:c.2857-139_2857-138del	NP_001119580.1:n.2857-139_2857-138del
XM_005256119.1:c.2854-139_2854-138del	XP_005256176.1:n.2854-139_2854-138del
XM_005256119.2:c.2854-139_2854-138del	XP_005256176.1:n.2854-139_2854-138del
NM_000339.3:c.2884-139_2884-138del	NP_000330.3:n.2884-139_2884-138del
NM_001126107.2:c.2881-139_2881-138del	NP_001119579.2:n.2881-139_2881-138del
NM_001126108.2:c.2857-139_2857-138del MANE Select	NP_001119580.2:n.2857-139_2857-138del