Canonical Allele Identifier: CA2261305822

Gene: SLC4A1

Linked Data

• dbSNP Id: rs2047319108
• gnomAD v4: 17-44249259-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249260del , CM000679.2:g.44249260del	GRCh38
NC_000017.10:g.42326628del , CM000679.1:g.42326628del	GRCh37
NC_000017.9:g.39682154del	NCBI36
NG_007498.1:g.23875del

Transcript Alleles

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