Canonical Allele Identifier: CA395986186

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56879188_56879197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879188_56879197del , CM000678.2:g.56879188_56879197del	GRCh38
NC_000016.9:g.56913100_56913109del , CM000678.1:g.56913100_56913109del	GRCh37
NC_000016.8:g.55470601_55470610del	NCBI36
NG_009386.1:g.18982_18991del
NG_009386.2:g.18982_18991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1296_1305del MANE Select	ENSP00000456149.2:p.Gln432HisfsTer13
ENST00000262502.5:c.1293_1302del	ENSP00000262502.5:p.Gln431HisfsTer13
ENST00000438926.6:c.1296_1305del	ENSP00000402152.2:p.Gln432HisfsTer13
ENST00000563236.5:c.1296_1305del	ENSP00000456149.1:p.Gln432HisfsTer13
ENST00000566786.5:c.1293_1302del	ENSP00000457552.1:p.Gln431HisfsTer13
NM_000339.2:c.1296_1305del	NP_000330.2:p.Gln432HisfsTer13
NM_001126107.1:c.1293_1302del	NP_001119579.1:p.Gln431HisfsTer13
NM_001126108.1:c.1296_1305del	NP_001119580.1:p.Gln432HisfsTer13
XM_005256119.1:c.1293_1302del	XP_005256176.1:p.Gln431HisfsTer13
XM_005256119.2:c.1293_1302del	XP_005256176.1:p.Gln431HisfsTer13
NM_000339.3:c.1296_1305del	NP_000330.3:p.Gln432HisfsTer13
NM_001126107.2:c.1293_1302del	NP_001119579.2:p.Gln431HisfsTer13
NM_001126108.2:c.1296_1305del MANE Select	NP_001119580.2:p.Gln432HisfsTer13