Canonical Allele Identifier: CA2638189677

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249686-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249687dup , CM000679.2:g.44249687dup	GRCh38
NC_000017.10:g.42327055dup , CM000679.1:g.42327055dup	GRCh37
NC_000017.9:g.39682581dup	NCBI36
NG_007498.1:g.23448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*771dup MANE Select	ENSP00000262418.6:n.*771dup
ENST00000262418.10:c.*771dup	ENSP00000262418.6:n.*771dup
ENST00000399246.3:c.*771dup	ENSP00000382190.3:n.*771dup
ENST00000631130.1:c.-437dup	ENSP00000486787.1:n.-437dup
NM_000342.3:c.*771dup	NP_000333.1:n.*771dup
XM_005257593.3:c.*771dup	XP_005257650.1:n.*771dup
XM_011525129.1:c.*771dup	XP_011523431.1:n.*771dup
XM_005257593.5:c.*771dup	XP_005257650.1:n.*771dup
XM_011525129.2:c.*771dup	XP_011523431.1:n.*771dup
NM_000342.4:c.*771dup MANE Select	NP_000333.1:n.*771dup