Canonical Allele Identifier: CA2638191153

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254457-T-TACCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254457_44254458insACCAA , CM000679.2:g.44254457_44254458insACCAA	GRCh38
NC_000017.10:g.42331825_42331826insACCAA , CM000679.1:g.42331825_42331826insACCAA	GRCh37
NC_000017.9:g.39687351_39687352insACCAA	NCBI36
NG_007498.1:g.18677_18678insTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+38_2057+39insTTGGT MANE Select	ENSP00000262418.6:n.2057+38_2057+39insTTGGT
ENST00000262418.10:c.2057+38_2057+39insTTGGT	ENSP00000262418.6:n.2057+38_2057+39insTTGGT
ENST00000399246.3:c.959+38_959+39insTTGGT	ENSP00000382190.3:n.959+38_959+39insTTGGT
NM_000342.3:c.2057+38_2057+39insTTGGT	NP_000333.1:n.2057+38_2057+39insTTGGT
XM_005257593.3:c.1862+38_1862+39insTTGGT	XP_005257650.1:n.1862+38_1862+39insTTGGT
XM_011525129.1:c.1967+38_1967+39insTTGGT	XP_011523431.1:n.1967+38_1967+39insTTGGT
XM_011525130.1:c.2057+38_2057+39insTTGGT	XP_011523432.1:n.2057+38_2057+39insTTGGT
XM_011525131.1:c.2057+38_2057+39insTTGGT	XP_011523433.1:n.2057+38_2057+39insTTGGT
XM_005257593.5:c.1862+38_1862+39insTTGGT	XP_005257650.1:n.1862+38_1862+39insTTGGT
XM_011525129.2:c.1967+38_1967+39insTTGGT	XP_011523431.1:n.1967+38_1967+39insTTGGT
NM_000342.4:c.2057+38_2057+39insTTGGT MANE Select	NP_000333.1:n.2057+38_2057+39insTTGGT