Canonical Allele Identifier: CA2809585932
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254479_44254481dup , CM000679.2:g.44254479_44254481dup GRCh38
NC_000017.10:g.42331847_42331849dup , CM000679.1:g.42331847_42331849dup GRCh37
NC_000017.9:g.39687373_39687375dup NCBI36
NG_007498.1:g.18656_18658dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2057+17_2057+19dup MANE Select ENSP00000262418.6:n.2057+17_2057+19dup
ENST00000262418.10:c.2057+17_2057+19dup ENSP00000262418.6:n.2057+17_2057+19dup
ENST00000399246.3:c.959+17_959+19dup ENSP00000382190.3:n.959+17_959+19dup
NM_000342.3:c.2057+17_2057+19dup NP_000333.1:n.2057+17_2057+19dup
XM_005257593.3:c.1862+17_1862+19dup XP_005257650.1:n.1862+17_1862+19dup
XM_011525129.1:c.1967+17_1967+19dup XP_011523431.1:n.1967+17_1967+19dup
XM_011525130.1:c.2057+17_2057+19dup XP_011523432.1:n.2057+17_2057+19dup
XM_011525131.1:c.2057+17_2057+19dup XP_011523433.1:n.2057+17_2057+19dup
XM_005257593.5:c.1862+17_1862+19dup XP_005257650.1:n.1862+17_1862+19dup
XM_011525129.2:c.1967+17_1967+19dup XP_011523431.1:n.1967+17_1967+19dup
NM_000342.4:c.2057+17_2057+19dup MANE Select NP_000333.1:n.2057+17_2057+19dup