Canonical Allele Identifier: CA626123415

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1324351103
• gnomAD v2: 17-42326614-G-GTT
• gnomAD v3: 17-44249246-G-GTT
• gnomAD v4: 17-44249246-G-GTT
• MyVariant Identifiers: chr17:g.42326614_42326615insTT (hg19) ; chr17:g.44249246_44249247insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249249_44249250dup , CM000679.2:g.44249249_44249250dup	GRCh38
NC_000017.10:g.42326617_42326618dup , CM000679.1:g.42326617_42326618dup	GRCh37
NC_000017.9:g.39682143_39682144dup	NCBI36
NG_007498.1:g.23887_23888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1210_*1211dup MANE Select	ENSP00000262418.6:n.*1210_*1211dup
ENST00000262418.10:c.*1210_*1211dup	ENSP00000262418.6:n.*1210_*1211dup
ENST00000399246.3:c.*1210_*1211dup	ENSP00000382190.3:n.*1210_*1211dup
ENST00000631130.1:c.-44_-43dup	ENSP00000486787.1:n.-44_-43dup
NM_000342.3:c.*1210_*1211dup	NP_000333.1:n.*1210_*1211dup
XM_005257593.3:c.*1210_*1211dup	XP_005257650.1:n.*1210_*1211dup
XM_011525129.1:c.*1210_*1211dup	XP_011523431.1:n.*1210_*1211dup
NM_000342.4:c.*1210_*1211dup MANE Select	NP_000333.1:n.*1210_*1211dup