Canonical Allele Identifier: CA10607492

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 291835
• ClinVar RCV Id: RCV000303530
• dbSNP Id: rs886045060
• gnomAD v2: 1-113455427-TA-T
• gnomAD v3: 1-112912805-TA-T
• gnomAD v4: 1-112912805-TA-T
• MyVariant Identifiers: chr1:g.113455431del (hg19) ; chr1:g.113455428del (hg19) ; chr1:g.112912809del (hg38) ; chr1:g.112912806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112912818del , CM000663.2:g.112912818del	GRCh38
NC_000001.10:g.113455440del , CM000663.1:g.113455440del	GRCh37
NC_000001.9:g.113256963del	NCBI36
NG_015880.2:g.48123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.*1085del MANE Select	ENSP00000358640.4:n.*1085del
ENST00000429288.2:c.*1085del	ENSP00000397106.2:n.*1085del
ENST00000443580.6:c.*1085del	ENSP00000399104.2:n.*1085del
ENST00000458229.6:c.*1085del	ENSP00000416167.2:n.*1085del
ENST00000679803.1:c.*1085del	ENSP00000505879.1:n.*1085del
ENST00000369626.7:c.*1085del	ENSP00000358640.3:n.*1085del
ENST00000538576.5:c.*1085del	ENSP00000441065.1:n.*1085del
NM_001166496.1:c.*1085del	NP_001159968.1:n.*1085del
NM_003051.3:c.*1085del	NP_003042.3:n.*1085del
XM_011542026.1:c.*1085del	XP_011540328.1:n.*1085del
XM_011542027.1:c.*1085del	XP_011540329.1:n.*1085del
NM_003051.4:c.*1085del MANE Select	NP_003042.3:n.*1085del
NM_001166496.2:c.*1085del	NP_001159968.1:n.*1085del