Canonical Allele Identifier: CA2261305793
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249194_44249195delinsGT , CM000679.2:g.44249194_44249195delinsGT GRCh38
NC_000017.10:g.42326562_42326563delinsGT , CM000679.1:g.42326562_42326563delinsGT GRCh37
NC_000017.9:g.39682088_39682089delinsGT NCBI36
NG_007498.1:g.23940_23941delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1263_*1264delinsAC MANE Select ENSP00000262418.6:n.*1263_*1264delinsAC
ENST00000262418.10:c.*1263_*1264delinsAC ENSP00000262418.6:n.*1263_*1264delinsAC
ENST00000399246.3:c.*1263_*1264delinsAC ENSP00000382190.3:n.*1263_*1264delinsAC
ENST00000631130.1:c.10_11delinsAC ENSP00000486787.1:p.Thr4=
NM_000342.3:c.*1263_*1264delinsAC NP_000333.1:n.*1263_*1264delinsAC
XM_005257593.3:c.*1263_*1264delinsAC XP_005257650.1:n.*1263_*1264delinsAC
XM_011525129.1:c.*1263_*1264delinsAC XP_011523431.1:n.*1263_*1264delinsAC
NM_000342.4:c.*1263_*1264delinsAC MANE Select NP_000333.1:n.*1263_*1264delinsAC