Canonical Allele Identifier: CA2261305821

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249259_44249260delinsAT , CM000679.2:g.44249259_44249260delinsAT	GRCh38
NC_000017.10:g.42326627_42326628delinsAT , CM000679.1:g.42326627_42326628delinsAT	GRCh37
NC_000017.9:g.39682153_39682154delinsAT	NCBI36
NG_007498.1:g.23875_23876delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1198_*1199delinsAT MANE Select	ENSP00000262418.6:n.*1198_*1199delinsAT
ENST00000262418.10:c.*1198_*1199delinsAT	ENSP00000262418.6:n.*1198_*1199delinsAT
ENST00000399246.3:c.*1198_*1199delinsAT	ENSP00000382190.3:n.*1198_*1199delinsAT
ENST00000631130.1:c.-56_-55delinsAT	ENSP00000486787.1:n.-56_-55delinsAT
NM_000342.3:c.*1198_*1199delinsAT	NP_000333.1:n.*1198_*1199delinsAT
XM_005257593.3:c.*1198_*1199delinsAT	XP_005257650.1:n.*1198_*1199delinsAT
XM_011525129.1:c.*1198_*1199delinsAT	XP_011523431.1:n.*1198_*1199delinsAT
NM_000342.4:c.*1198_*1199delinsAT MANE Select	NP_000333.1:n.*1198_*1199delinsAT