Canonical Allele Identifier: CA2809585902
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254181del , CM000679.2:g.44254181del GRCh38
NC_000017.10:g.42331549del , CM000679.1:g.42331549del GRCh37
NC_000017.9:g.39687075del NCBI36
NG_007498.1:g.18954del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2057+315del MANE Select ENSP00000262418.6:n.2057+315del
ENST00000262418.10:c.2057+315del ENSP00000262418.6:n.2057+315del
ENST00000399246.3:c.959+315del ENSP00000382190.3:n.959+315del
NM_000342.3:c.2057+315del NP_000333.1:n.2057+315del
XM_005257593.3:c.1862+315del XP_005257650.1:n.1862+315del
XM_011525129.1:c.1967+315del XP_011523431.1:n.1967+315del
XM_011525130.1:c.2057+315del XP_011523432.1:n.2057+315del
XM_011525131.1:c.2057+315del XP_011523433.1:n.2057+315del
XM_005257593.5:c.1862+315del XP_005257650.1:n.1862+315del
XM_011525129.2:c.1967+315del XP_011523431.1:n.1967+315del
NM_000342.4:c.2057+315del MANE Select NP_000333.1:n.2057+315del