Canonical Allele Identifier: CA2638189430

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249013-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249016_44249017del , CM000679.2:g.44249016_44249017del	GRCh38
NC_000017.10:g.42326384_42326385del , CM000679.1:g.42326384_42326385del	GRCh37
NC_000017.9:g.39681910_39681911del	NCBI36
NG_007498.1:g.24120_24121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*1443_*1444del MANE Select	ENSP00000262418.6:n.*1443_*1444del
ENST00000262418.10:c.*1443_*1444del	ENSP00000262418.6:n.*1443_*1444del
ENST00000399246.3:c.*1443_*1444del	ENSP00000382190.3:n.*1443_*1444del
ENST00000631130.1:c.*79_*80del	ENSP00000486787.1:n.*79_*80del
NM_000342.3:c.*1443_*1444del	NP_000333.1:n.*1443_*1444del
XM_005257593.3:c.*1443_*1444del	XP_005257650.1:n.*1443_*1444del
XM_011525129.1:c.*1443_*1444del	XP_011523431.1:n.*1443_*1444del
NM_000342.4:c.*1443_*1444del MANE Select	NP_000333.1:n.*1443_*1444del