Canonical Allele Identifier: CA2633373160

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56884155-CATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884156_56884200del , CM000678.2:g.56884156_56884200del	GRCh38
NC_000016.9:g.56918068_56918112del , CM000678.1:g.56918068_56918112del	GRCh37
NC_000016.8:g.55475569_55475613del	NCBI36
NG_009386.1:g.23950_23994del
NG_009386.2:g.23950_23994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1777_1821del MANE Select	ENSP00000456149.2:p.Ile593_Lys607del
ENST00000262502.5:c.1774_1818del	ENSP00000262502.5:p.Ile592_Lys606del
ENST00000438926.6:c.1777_1821del	ENSP00000402152.2:p.Ile593_Lys607del
ENST00000563236.5:c.1777_1821del	ENSP00000456149.1:p.Ile593_Lys607del
ENST00000566786.5:c.1774_1818del	ENSP00000457552.1:p.Ile592_Lys606del
NM_000339.2:c.1777_1821del	NP_000330.2:p.Ile593_Lys607del
NM_001126107.1:c.1774_1818del	NP_001119579.1:p.Ile592_Lys606del
NM_001126108.1:c.1777_1821del	NP_001119580.1:p.Ile593_Lys607del
XM_005256119.1:c.1774_1818del	XP_005256176.1:p.Ile592_Lys606del
XM_005256119.2:c.1774_1818del	XP_005256176.1:p.Ile592_Lys606del
NM_000339.3:c.1777_1821del	NP_000330.3:p.Ile593_Lys607del
NM_001126107.2:c.1774_1818del	NP_001119579.2:p.Ile592_Lys606del
NM_001126108.2:c.1777_1821del MANE Select	NP_001119580.2:p.Ile593_Lys607del