Canonical Allele Identifier: CA2576002299

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894730del , CM000678.2:g.56894730del	GRCh38
NC_000016.9:g.56928642del , CM000678.1:g.56928642del	GRCh37
NC_000016.8:g.55486143del	NCBI36
NG_009386.1:g.34524del
NG_009386.2:g.34524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+88del MANE Select	ENSP00000456149.2:n.2633+88del
ENST00000262502.5:c.2630+88del	ENSP00000262502.5:n.2630+88del
ENST00000438926.6:c.2660+88del	ENSP00000402152.2:n.2660+88del
ENST00000563236.5:c.2633+88del	ENSP00000456149.1:n.2633+88del
ENST00000566786.5:c.2657+88del	ENSP00000457552.1:n.2657+88del
NM_000339.2:c.2660+88del	NP_000330.2:n.2660+88del
NM_001126107.1:c.2657+88del	NP_001119579.1:n.2657+88del
NM_001126108.1:c.2633+88del	NP_001119580.1:n.2633+88del
XM_005256119.1:c.2630+88del	XP_005256176.1:n.2630+88del
XM_005256119.2:c.2630+88del	XP_005256176.1:n.2630+88del
NM_000339.3:c.2660+88del	NP_000330.3:n.2660+88del
NM_001126107.2:c.2657+88del	NP_001119579.2:n.2657+88del
NM_001126108.2:c.2633+88del MANE Select	NP_001119580.2:n.2633+88del