Canonical Allele Identifier: CA2261308269
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254558_44254561delinsAAAC , CM000679.2:g.44254558_44254561delinsAAAC GRCh38
NC_000017.10:g.42331926_42331929delinsAAAC , CM000679.1:g.42331926_42331929delinsAAAC GRCh37
NC_000017.9:g.39687452_39687455delinsAAAC NCBI36
NG_007498.1:g.18574_18577delinsGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1992_1995delinsGTTT MANE Select ENSP00000262418.6:p.Met664=
ENST00000262418.10:c.1992_1995delinsGTTT ENSP00000262418.6:p.Met664=
ENST00000399246.3:c.894_897delinsGTTT ENSP00000382190.3:p.Met298=
NM_000342.3:c.1992_1995delinsGTTT NP_000333.1:p.Met664=
XM_005257593.3:c.1797_1800delinsGTTT XP_005257650.1:p.Met599=
XM_011525129.1:c.1902_1905delinsGTTT XP_011523431.1:p.Met634=
XM_011525130.1:c.1992_1995delinsGTTT XP_011523432.1:p.Met664=
XM_011525131.1:c.1992_1995delinsGTTT XP_011523433.1:p.Met664=
XM_005257593.5:c.1797_1800delinsGTTT XP_005257650.1:p.Met599=
XM_011525129.2:c.1902_1905delinsGTTT XP_011523431.1:p.Met634=
NM_000342.4:c.1992_1995delinsGTTT MANE Select NP_000333.1:p.Met664=