Canonical Allele Identifier: CA2809585925

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254468_44254469insCCGC , CM000679.2:g.44254468_44254469insCCGC	GRCh38
NC_000017.10:g.42331836_42331837insCCGC , CM000679.1:g.42331836_42331837insCCGC	GRCh37
NC_000017.9:g.39687362_39687363insCCGC	NCBI36
NG_007498.1:g.18667_18668insCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+28_2057+29insCGGG MANE Select	ENSP00000262418.6:n.2057+28_2057+29insCGGG
ENST00000262418.10:c.2057+28_2057+29insCGGG	ENSP00000262418.6:n.2057+28_2057+29insCGGG
ENST00000399246.3:c.959+28_959+29insCGGG	ENSP00000382190.3:n.959+28_959+29insCGGG
NM_000342.3:c.2057+28_2057+29insCGGG	NP_000333.1:n.2057+28_2057+29insCGGG
XM_005257593.3:c.1862+28_1862+29insCGGG	XP_005257650.1:n.1862+28_1862+29insCGGG
XM_011525129.1:c.1967+28_1967+29insCGGG	XP_011523431.1:n.1967+28_1967+29insCGGG
XM_011525130.1:c.2057+28_2057+29insCGGG	XP_011523432.1:n.2057+28_2057+29insCGGG
XM_011525131.1:c.2057+28_2057+29insCGGG	XP_011523433.1:n.2057+28_2057+29insCGGG
XM_005257593.5:c.1862+28_1862+29insCGGG	XP_005257650.1:n.1862+28_1862+29insCGGG
XM_011525129.2:c.1967+28_1967+29insCGGG	XP_011523431.1:n.1967+28_1967+29insCGGG
NM_000342.4:c.2057+28_2057+29insCGGG MANE Select	NP_000333.1:n.2057+28_2057+29insCGGG