Canonical Allele Identifier: CA2809585473

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249318_44249320del , CM000679.2:g.44249318_44249320del	GRCh38
NC_000017.10:g.42326686_42326688del , CM000679.1:g.42326686_42326688del	GRCh37
NC_000017.9:g.39682212_39682214del	NCBI36
NG_007498.1:g.23815_23817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1138_*1140del MANE Select	ENSP00000262418.6:n.*1138_*1140del
ENST00000262418.10:c.*1138_*1140del	ENSP00000262418.6:n.*1138_*1140del
ENST00000399246.3:c.*1138_*1140del	ENSP00000382190.3:n.*1138_*1140del
ENST00000631130.1:c.-116_-114del	ENSP00000486787.1:n.-116_-114del
NM_000342.3:c.*1138_*1140del	NP_000333.1:n.*1138_*1140del
XM_005257593.3:c.*1138_*1140del	XP_005257650.1:n.*1138_*1140del
XM_011525129.1:c.*1138_*1140del	XP_011523431.1:n.*1138_*1140del
NM_000342.4:c.*1138_*1140del MANE Select	NP_000333.1:n.*1138_*1140del