Canonical Allele Identifier: CA2695223509

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56865425_56865427del , CM000678.2:g.56865425_56865427del	GRCh38
NC_000016.9:g.56899337_56899339del , CM000678.1:g.56899337_56899339del	GRCh37
NC_000016.8:g.55456838_55456840del	NCBI36
NG_009386.1:g.5219_5221del
NG_009386.2:g.5219_5221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.190_192del MANE Select	ENSP00000456149.2:p.Val64del
ENST00000262502.5:c.190_192del	ENSP00000262502.5:p.Val64del
ENST00000438926.6:c.190_192del	ENSP00000402152.2:p.Val64del
ENST00000563236.5:c.190_192del	ENSP00000456149.1:p.Val64del
ENST00000566786.5:c.190_192del	ENSP00000457552.1:p.Val64del
NM_000339.2:c.190_192del	NP_000330.2:p.Val64del
NM_001126107.1:c.190_192del	NP_001119579.1:p.Val64del
NM_001126108.1:c.190_192del	NP_001119580.1:p.Val64del
XM_005256119.1:c.190_192del	XP_005256176.1:p.Val64del
XM_005256119.2:c.190_192del	XP_005256176.1:p.Val64del
NM_000339.3:c.190_192del	NP_000330.3:p.Val64del
NM_001126107.2:c.190_192del	NP_001119579.2:p.Val64del
NM_001126108.2:c.190_192del MANE Select	NP_001119580.2:p.Val64del