Canonical Allele Identifier: CA2638189470

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249164-C-CGAATGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249164_44249165insGAATGAG , CM000679.2:g.44249164_44249165insGAATGAG	GRCh38
NC_000017.10:g.42326532_42326533insGAATGAG , CM000679.1:g.42326532_42326533insGAATGAG	GRCh37
NC_000017.9:g.39682058_39682059insGAATGAG	NCBI36
NG_007498.1:g.23970_23971insCTCATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1293_*1294insCTCATTC MANE Select	ENSP00000262418.6:n.*1293_*1294insCTCATTC
ENST00000262418.10:c.*1293_*1294insCTCATTC	ENSP00000262418.6:n.*1293_*1294insCTCATTC
ENST00000399246.3:c.*1293_*1294insCTCATTC	ENSP00000382190.3:n.*1293_*1294insCTCATTC
ENST00000631130.1:c.40_41insCTCATTC	ENSP00000486787.1:p.Arg14ThrfsTer13
NM_000342.3:c.*1293_*1294insCTCATTC	NP_000333.1:n.*1293_*1294insCTCATTC
XM_005257593.3:c.*1293_*1294insCTCATTC	XP_005257650.1:n.*1293_*1294insCTCATTC
XM_011525129.1:c.*1293_*1294insCTCATTC	XP_011523431.1:n.*1293_*1294insCTCATTC
NM_000342.4:c.*1293_*1294insCTCATTC MANE Select	NP_000333.1:n.*1293_*1294insCTCATTC