Canonical Allele Identifier: CA2224356592

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885152_56885153delinsCG , CM000678.2:g.56885152_56885153delinsCG	GRCh38
NC_000016.9:g.56919064_56919065delinsCG , CM000678.1:g.56919064_56919065delinsCG	GRCh37
NC_000016.8:g.55476565_55476566delinsCG	NCBI36
NG_009386.1:g.24946_24947delinsCG
NG_009386.2:g.24946_24947delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1826-113_1826-112delinsCG MANE Select	ENSP00000456149.2:n.1826-113_1826-112delinsCG
ENST00000262502.5:c.1823-113_1823-112delinsCG	ENSP00000262502.5:n.1823-113_1823-112delinsCG
ENST00000438926.6:c.1826-113_1826-112delinsCG	ENSP00000402152.2:n.1826-113_1826-112delinsCG
ENST00000563236.5:c.1826-113_1826-112delinsCG	ENSP00000456149.1:n.1826-113_1826-112delinsCG
ENST00000566786.5:c.1823-113_1823-112delinsCG	ENSP00000457552.1:n.1823-113_1823-112delinsCG
NM_000339.2:c.1826-113_1826-112delinsCG	NP_000330.2:n.1826-113_1826-112delinsCG
NM_001126107.1:c.1823-113_1823-112delinsCG	NP_001119579.1:n.1823-113_1823-112delinsCG
NM_001126108.1:c.1826-113_1826-112delinsCG	NP_001119580.1:n.1826-113_1826-112delinsCG
XM_005256119.1:c.1823-113_1823-112delinsCG	XP_005256176.1:n.1823-113_1823-112delinsCG
XM_005256119.2:c.1823-113_1823-112delinsCG	XP_005256176.1:n.1823-113_1823-112delinsCG
NM_000339.3:c.1826-113_1826-112delinsCG	NP_000330.3:n.1826-113_1826-112delinsCG
NM_001126107.2:c.1823-113_1823-112delinsCG	NP_001119579.2:n.1823-113_1823-112delinsCG
NM_001126108.2:c.1826-113_1826-112delinsCG MANE Select	NP_001119580.2:n.1826-113_1826-112delinsCG