Canonical Allele Identifier: CA2633372350

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56869621-TGAAGCTCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869626_56869635del , CM000678.2:g.56869626_56869635del	GRCh38
NC_000016.9:g.56903538_56903547del , CM000678.1:g.56903538_56903547del	GRCh37
NC_000016.8:g.55461039_55461048del	NCBI36
NG_009386.1:g.9420_9429del
NG_009386.2:g.9420_9429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.506-103_506-94del MANE Select	ENSP00000456149.2:n.506-103_506-94del
ENST00000262502.5:c.503-103_503-94del	ENSP00000262502.5:n.503-103_503-94del
ENST00000438926.6:c.506-103_506-94del	ENSP00000402152.2:n.506-103_506-94del
ENST00000563236.5:c.506-103_506-94del	ENSP00000456149.1:n.506-103_506-94del
ENST00000566786.5:c.503-103_503-94del	ENSP00000457552.1:n.503-103_503-94del
NM_000339.2:c.506-103_506-94del	NP_000330.2:n.506-103_506-94del
NM_001126107.1:c.503-103_503-94del	NP_001119579.1:n.503-103_503-94del
NM_001126108.1:c.506-103_506-94del	NP_001119580.1:n.506-103_506-94del
XM_005256119.1:c.503-103_503-94del	XP_005256176.1:n.503-103_503-94del
XM_005256119.2:c.503-103_503-94del	XP_005256176.1:n.503-103_503-94del
NM_000339.3:c.506-103_506-94del	NP_000330.3:n.506-103_506-94del
NM_001126107.2:c.503-103_503-94del	NP_001119579.2:n.503-103_503-94del
NM_001126108.2:c.506-103_506-94del MANE Select	NP_001119580.2:n.506-103_506-94del