Canonical Allele Identifier: CA2638189467

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249162-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249167_44249169del , CM000679.2:g.44249167_44249169del	GRCh38
NC_000017.10:g.42326535_42326537del , CM000679.1:g.42326535_42326537del	GRCh37
NC_000017.9:g.39682061_39682063del	NCBI36
NG_007498.1:g.23970_23972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1293_*1295del MANE Select	ENSP00000262418.6:n.*1293_*1295del
ENST00000262418.10:c.*1293_*1295del	ENSP00000262418.6:n.*1293_*1295del
ENST00000399246.3:c.*1293_*1295del	ENSP00000382190.3:n.*1293_*1295del
ENST00000631130.1:c.40_42del	ENSP00000486787.1:p.Arg14del
NM_000342.3:c.*1293_*1295del	NP_000333.1:n.*1293_*1295del
XM_005257593.3:c.*1293_*1295del	XP_005257650.1:n.*1293_*1295del
XM_011525129.1:c.*1293_*1295del	XP_011523431.1:n.*1293_*1295del
NM_000342.4:c.*1293_*1295del MANE Select	NP_000333.1:n.*1293_*1295del