Canonical Allele Identifier: CA2633379059

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56879058-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879060_56879062del , CM000678.2:g.56879060_56879062del	GRCh38
NC_000016.9:g.56912972_56912974del , CM000678.1:g.56912972_56912974del	GRCh37
NC_000016.8:g.55470473_55470475del	NCBI36
NG_009386.1:g.18854_18856del
NG_009386.2:g.18854_18856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1181-13_1181-11del MANE Select	ENSP00000456149.2:n.1181-13_1181-11del
ENST00000262502.5:c.1178-13_1178-11del	ENSP00000262502.5:n.1178-13_1178-11del
ENST00000438926.6:c.1181-13_1181-11del	ENSP00000402152.2:n.1181-13_1181-11del
ENST00000563236.5:c.1181-13_1181-11del	ENSP00000456149.1:n.1181-13_1181-11del
ENST00000566786.5:c.1178-13_1178-11del	ENSP00000457552.1:n.1178-13_1178-11del
NM_000339.2:c.1181-13_1181-11del	NP_000330.2:n.1181-13_1181-11del
NM_001126107.1:c.1178-13_1178-11del	NP_001119579.1:n.1178-13_1178-11del
NM_001126108.1:c.1181-13_1181-11del	NP_001119580.1:n.1181-13_1181-11del
XM_005256119.1:c.1178-13_1178-11del	XP_005256176.1:n.1178-13_1178-11del
XM_005256119.2:c.1178-13_1178-11del	XP_005256176.1:n.1178-13_1178-11del
NM_000339.3:c.1181-13_1181-11del	NP_000330.3:n.1181-13_1181-11del
NM_001126107.2:c.1178-13_1178-11del	NP_001119579.2:n.1178-13_1178-11del
NM_001126108.2:c.1181-13_1181-11del MANE Select	NP_001119580.2:n.1181-13_1181-11del