Canonical Allele Identifier: CA2261308283
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254597_44254598delinsTG , CM000679.2:g.44254597_44254598delinsTG GRCh38
NC_000017.10:g.42331965_42331966delinsTG , CM000679.1:g.42331965_42331966delinsTG GRCh37
NC_000017.9:g.39687491_39687492delinsTG NCBI36
NG_007498.1:g.18537_18538delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1955_1956delinsCA MANE Select ENSP00000262418.6:p.Pro652=
ENST00000262418.10:c.1955_1956delinsCA ENSP00000262418.6:p.Pro652=
ENST00000399246.3:c.857_858delinsCA ENSP00000382190.3:p.Pro286=
NM_000342.3:c.1955_1956delinsCA NP_000333.1:p.Pro652=
XM_005257593.3:c.1760_1761delinsCA XP_005257650.1:p.Pro587=
XM_011525129.1:c.1865_1866delinsCA XP_011523431.1:p.Pro622=
XM_011525130.1:c.1955_1956delinsCA XP_011523432.1:p.Pro652=
XM_011525131.1:c.1955_1956delinsCA XP_011523433.1:p.Pro652=
XM_005257593.5:c.1760_1761delinsCA XP_005257650.1:p.Pro587=
XM_011525129.2:c.1865_1866delinsCA XP_011523431.1:p.Pro622=
NM_000342.4:c.1955_1956delinsCA MANE Select NP_000333.1:p.Pro652=