Canonical Allele Identifier: CA617822396

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1391477353
• gnomAD v2: 15-48521241-TAACA-T
• gnomAD v3: 15-48229044-TAACA-T
• gnomAD v4: 15-48229044-TAACA-T
• MyVariant Identifiers: chr15:g.48521242_48521245del (hg19) ; chr15:g.48229045_48229048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229045_48229048del , CM000677.2:g.48229045_48229048del	GRCh38
NC_000015.9:g.48521242_48521245del , CM000677.1:g.48521242_48521245del	GRCh37
NC_000015.8:g.46308534_46308537del	NCBI36
NG_021301.1:g.27745_27748del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.725-144_725-141del	ENSP00000508901.1:n.725-144_725-141del
ENST00000380993.8:c.725-144_725-141del MANE Select	ENSP00000370381.3:n.725-144_725-141del
ENST00000646012.1:c.863-144_863-141del	ENSP00000495813.1:n.863-144_863-141del
ENST00000647232.1:c.725-144_725-141del	ENSP00000493875.1:n.725-144_725-141del
ENST00000647546.1:c.725-144_725-141del	ENSP00000495332.1:n.725-144_725-141del
ENST00000330289.10:c.725-144_725-141del	ENSP00000331550.6:n.725-144_725-141del
ENST00000380993.7:c.725-144_725-141del	ENSP00000370381.3:n.725-144_725-141del
ENST00000396577.7:c.725-144_725-141del	ENSP00000379822.3:n.725-144_725-141del
ENST00000558252.5:n.4848-144_4848-141del
ENST00000558405.5:c.725-144_725-141del	ENSP00000453409.1:n.725-144_725-141del
ENST00000559641.5:c.164-144_164-141del	ENSP00000453230.1:n.164-144_164-141del
ENST00000559723.2:n.98-144_98-141del
ENST00000560692.5:n.4720_4723del
ENST00000561127.5:c.164-144_164-141del	ENSP00000453602.2:n.164-144_164-141del
NM_000338.2:c.725-144_725-141del	NP_000329.2:n.725-144_725-141del
NM_001184832.1:c.725-144_725-141del	NP_001171761.1:n.725-144_725-141del
XM_005254605.1:c.821-144_821-141del	XP_005254662.1:n.821-144_821-141del
XM_005254606.1:c.725-144_725-141del	XP_005254663.1:n.725-144_725-141del
XM_006720656.1:c.821-144_821-141del	XP_006720719.1:n.821-144_821-141del
XR_931896.1:n.1037-144_1037-141del
XR_932203.1:n.229+908_229+911del
XR_932204.1:n.222+908_222+911del
XM_005254606.2:c.725-144_725-141del	XP_005254663.1:n.725-144_725-141del
XR_001751524.2:n.230+908_230+911del
XR_001751525.1:n.230+908_230+911del
XR_002957762.1:n.230+908_230+911del
XR_932204.3:n.224+908_224+911del
NM_000338.3:c.725-144_725-141del MANE Select	NP_000329.2:n.725-144_725-141del
NM_001184832.2:c.725-144_725-141del	NP_001171761.1:n.725-144_725-141del
NM_001384136.1:c.725-144_725-141del	NP_001371065.1:n.725-144_725-141del