Canonical Allele Identifier: CA2261305790

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249184_44249185delinsTC , CM000679.2:g.44249184_44249185delinsTC	GRCh38
NC_000017.10:g.42326552_42326553delinsTC , CM000679.1:g.42326552_42326553delinsTC	GRCh37
NC_000017.9:g.39682078_39682079delinsTC	NCBI36
NG_007498.1:g.23950_23951delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1273_*1274delinsGA MANE Select	ENSP00000262418.6:n.*1273_*1274delinsGA
ENST00000262418.10:c.*1273_*1274delinsGA	ENSP00000262418.6:n.*1273_*1274delinsGA
ENST00000399246.3:c.*1273_*1274delinsGA	ENSP00000382190.3:n.*1273_*1274delinsGA
ENST00000631130.1:c.20_21delinsGA	ENSP00000486787.1:p.Gly7=
NM_000342.3:c.*1273_*1274delinsGA	NP_000333.1:n.*1273_*1274delinsGA
XM_005257593.3:c.*1273_*1274delinsGA	XP_005257650.1:n.*1273_*1274delinsGA
XM_011525129.1:c.*1273_*1274delinsGA	XP_011523431.1:n.*1273_*1274delinsGA
NM_000342.4:c.*1273_*1274delinsGA MANE Select	NP_000333.1:n.*1273_*1274delinsGA