Canonical Allele Identifier: CA8069995

Gene: SLC12A3

Linked Data

• dbSNP Id: rs779305182
• ExAC: 16:56928597 TG / T
• gnomAD v2: 16-56928597-TG-T
• gnomAD v3: 16-56894685-TG-T
• gnomAD v4: 16-56894685-TG-T
• MyVariant Identifiers: chr16:g.56928598del (hg19) ; chr16:g.56894686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894686del , CM000678.2:g.56894686del	GRCh38
NC_000016.9:g.56928598del , CM000678.1:g.56928598del	GRCh37
NC_000016.8:g.55486099del	NCBI36
NG_009386.1:g.34480del
NG_009386.2:g.34480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+44del MANE Select	ENSP00000456149.2:n.2633+44del
ENST00000262502.5:c.2630+44del	ENSP00000262502.5:n.2630+44del
ENST00000438926.6:c.2660+44del	ENSP00000402152.2:n.2660+44del
ENST00000563236.5:c.2633+44del	ENSP00000456149.1:n.2633+44del
ENST00000566786.5:c.2657+44del	ENSP00000457552.1:n.2657+44del
NM_000339.2:c.2660+44del	NP_000330.2:n.2660+44del
NM_001126107.1:c.2657+44del	NP_001119579.1:n.2657+44del
NM_001126108.1:c.2633+44del	NP_001119580.1:n.2633+44del
XM_005256119.1:c.2630+44del	XP_005256176.1:n.2630+44del
XM_005256119.2:c.2630+44del	XP_005256176.1:n.2630+44del
NM_000339.3:c.2660+44del	NP_000330.3:n.2660+44del
NM_001126107.2:c.2657+44del	NP_001119579.2:n.2657+44del
NM_001126108.2:c.2633+44del MANE Select	NP_001119580.2:n.2633+44del