Canonical Allele Identifier: CA2633371196

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870190-CATGCACACG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870191_56870199del , CM000678.2:g.56870191_56870199del	GRCh38
NC_000016.9:g.56904103_56904111del , CM000678.1:g.56904103_56904111del	GRCh37
NC_000016.8:g.55461604_55461612del	NCBI36
NG_009386.1:g.9985_9993del
NG_009386.2:g.9985_9993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.697_705del MANE Select	ENSP00000456149.2:p.Met233_Thr235del
ENST00000262502.5:c.694_702del	ENSP00000262502.5:p.Met232_Thr234del
ENST00000438926.6:c.697_705del	ENSP00000402152.2:p.Met233_Thr235del
ENST00000563236.5:c.697_705del	ENSP00000456149.1:p.Met233_Thr235del
ENST00000566786.5:c.694_702del	ENSP00000457552.1:p.Met232_Thr234del
NM_000339.2:c.697_705del	NP_000330.2:p.Met233_Thr235del
NM_001126107.1:c.694_702del	NP_001119579.1:p.Met232_Thr234del
NM_001126108.1:c.697_705del	NP_001119580.1:p.Met233_Thr235del
XM_005256119.1:c.694_702del	XP_005256176.1:p.Met232_Thr234del
XM_005256119.2:c.694_702del	XP_005256176.1:p.Met232_Thr234del
NM_000339.3:c.697_705del	NP_000330.3:p.Met233_Thr235del
NM_001126107.2:c.694_702del	NP_001119579.2:p.Met232_Thr234del
NM_001126108.2:c.697_705del MANE Select	NP_001119580.2:p.Met233_Thr235del