Canonical Allele Identifier: CA525541850

Gene: SLC16A1

Linked Data

• dbSNP Id: rs1181291023
• gnomAD v2: 1-113456296-ACTTCTTTCCCCCAT-A
• gnomAD v3: 1-112913674-ACTTCTTTCCCCCAT-A
• gnomAD v4: 1-112913674-ACTTCTTTCCCCCAT-A
• MyVariant Identifiers: chr1:g.113456297_113456310del (hg19) ; chr1:g.112913675_112913688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112913676_112913689del , CM000663.2:g.112913676_112913689del	GRCh38
NC_000001.10:g.113456298_113456311del , CM000663.1:g.113456298_113456311del	GRCh37
NC_000001.9:g.113257821_113257834del	NCBI36
NG_015880.2:g.47241_47254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.*203_*216del MANE Select	ENSP00000358640.4:n.*203_*216del
ENST00000429288.2:c.*203_*216del	ENSP00000397106.2:n.*203_*216del
ENST00000443580.6:c.*203_*216del	ENSP00000399104.2:n.*203_*216del
ENST00000458229.6:c.*203_*216del	ENSP00000416167.2:n.*203_*216del
ENST00000679803.1:c.*203_*216del	ENSP00000505879.1:n.*203_*216del
ENST00000369626.7:c.*203_*216del	ENSP00000358640.3:n.*203_*216del
ENST00000538576.5:c.*203_*216del	ENSP00000441065.1:n.*203_*216del
NM_001166496.1:c.*203_*216del	NP_001159968.1:n.*203_*216del
NM_003051.3:c.*203_*216del	NP_003042.3:n.*203_*216del
XM_011542026.1:c.*203_*216del	XP_011540328.1:n.*203_*216del
XM_011542027.1:c.*203_*216del	XP_011540329.1:n.*203_*216del
NM_003051.4:c.*203_*216del MANE Select	NP_003042.3:n.*203_*216del
NM_001166496.2:c.*203_*216del	NP_001159968.1:n.*203_*216del