Canonical Allele Identifier: CA2224356193

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884121_56884122delinsTG , CM000678.2:g.56884121_56884122delinsTG	GRCh38
NC_000016.9:g.56918033_56918034delinsTG , CM000678.1:g.56918033_56918034delinsTG	GRCh37
NC_000016.8:g.55475534_55475535delinsTG	NCBI36
NG_009386.1:g.23915_23916delinsTG
NG_009386.2:g.23915_23916delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.1742_1743delinsTG MANE Select	ENSP00000456149.2:p.Met581=
ENST00000262502.5:c.1739_1740delinsTG	ENSP00000262502.5:p.Met580=
ENST00000438926.6:c.1742_1743delinsTG	ENSP00000402152.2:p.Met581=
ENST00000563236.5:c.1742_1743delinsTG	ENSP00000456149.1:p.Met581=
ENST00000566786.5:c.1739_1740delinsTG	ENSP00000457552.1:p.Met580=
NM_000339.2:c.1742_1743delinsTG	NP_000330.2:p.Met581=
NM_001126107.1:c.1739_1740delinsTG	NP_001119579.1:p.Met580=
NM_001126108.1:c.1742_1743delinsTG	NP_001119580.1:p.Met581=
XM_005256119.1:c.1739_1740delinsTG	XP_005256176.1:p.Met580=
XM_005256119.2:c.1739_1740delinsTG	XP_005256176.1:p.Met580=
NM_000339.3:c.1742_1743delinsTG	NP_000330.3:p.Met581=
NM_001126107.2:c.1739_1740delinsTG	NP_001119579.2:p.Met580=
NM_001126108.2:c.1742_1743delinsTG MANE Select	NP_001119580.2:p.Met581=