Canonical Allele Identifier: CA2261305815
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249240_44249241delinsCT , CM000679.2:g.44249240_44249241delinsCT GRCh38
NC_000017.10:g.42326608_42326609delinsCT , CM000679.1:g.42326608_42326609delinsCT GRCh37
NC_000017.9:g.39682134_39682135delinsCT NCBI36
NG_007498.1:g.23894_23895delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1217_*1218delinsAG MANE Select ENSP00000262418.6:n.*1217_*1218delinsAG
ENST00000262418.10:c.*1217_*1218delinsAG ENSP00000262418.6:n.*1217_*1218delinsAG
ENST00000399246.3:c.*1217_*1218delinsAG ENSP00000382190.3:n.*1217_*1218delinsAG
ENST00000631130.1:c.-37_-36delinsAG ENSP00000486787.1:n.-37_-36delinsAG
NM_000342.3:c.*1217_*1218delinsAG NP_000333.1:n.*1217_*1218delinsAG
XM_005257593.3:c.*1217_*1218delinsAG XP_005257650.1:n.*1217_*1218delinsAG
XM_011525129.1:c.*1217_*1218delinsAG XP_011523431.1:n.*1217_*1218delinsAG
NM_000342.4:c.*1217_*1218delinsAG MANE Select NP_000333.1:n.*1217_*1218delinsAG