Canonical Allele Identifier: CA2638191131

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254456-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254456_44254457insAG , CM000679.2:g.44254456_44254457insAG	GRCh38
NC_000017.10:g.42331824_42331825insAG , CM000679.1:g.42331824_42331825insAG	GRCh37
NC_000017.9:g.39687350_39687351insAG	NCBI36
NG_007498.1:g.18678_18679insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+39_2057+40insCT MANE Select	ENSP00000262418.6:n.2057+39_2057+40insCT
ENST00000262418.10:c.2057+39_2057+40insCT	ENSP00000262418.6:n.2057+39_2057+40insCT
ENST00000399246.3:c.959+39_959+40insCT	ENSP00000382190.3:n.959+39_959+40insCT
NM_000342.3:c.2057+39_2057+40insCT	NP_000333.1:n.2057+39_2057+40insCT
XM_005257593.3:c.1862+39_1862+40insCT	XP_005257650.1:n.1862+39_1862+40insCT
XM_011525129.1:c.1967+39_1967+40insCT	XP_011523431.1:n.1967+39_1967+40insCT
XM_011525130.1:c.2057+39_2057+40insCT	XP_011523432.1:n.2057+39_2057+40insCT
XM_011525131.1:c.2057+39_2057+40insCT	XP_011523433.1:n.2057+39_2057+40insCT
XM_005257593.5:c.1862+39_1862+40insCT	XP_005257650.1:n.1862+39_1862+40insCT
XM_011525129.2:c.1967+39_1967+40insCT	XP_011523431.1:n.1967+39_1967+40insCT
NM_000342.4:c.2057+39_2057+40insCT MANE Select	NP_000333.1:n.2057+39_2057+40insCT