Canonical Allele Identifier: CA2638191184

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254461-ACCCTCCCAGGCCCAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254465_44254480del , CM000679.2:g.44254465_44254480del	GRCh38
NC_000017.10:g.42331833_42331848del , CM000679.1:g.42331833_42331848del	GRCh37
NC_000017.9:g.39687359_39687374del	NCBI36
NG_007498.1:g.18658_18673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+19_2057+34del MANE Select	ENSP00000262418.6:n.2057+19_2057+34del
ENST00000262418.10:c.2057+19_2057+34del	ENSP00000262418.6:n.2057+19_2057+34del
ENST00000399246.3:c.959+19_959+34del	ENSP00000382190.3:n.959+19_959+34del
NM_000342.3:c.2057+19_2057+34del	NP_000333.1:n.2057+19_2057+34del
XM_005257593.3:c.1862+19_1862+34del	XP_005257650.1:n.1862+19_1862+34del
XM_011525129.1:c.1967+19_1967+34del	XP_011523431.1:n.1967+19_1967+34del
XM_011525130.1:c.2057+19_2057+34del	XP_011523432.1:n.2057+19_2057+34del
XM_011525131.1:c.2057+19_2057+34del	XP_011523433.1:n.2057+19_2057+34del
XM_005257593.5:c.1862+19_1862+34del	XP_005257650.1:n.1862+19_1862+34del
XM_011525129.2:c.1967+19_1967+34del	XP_011523431.1:n.1967+19_1967+34del
NM_000342.4:c.2057+19_2057+34del MANE Select	NP_000333.1:n.2057+19_2057+34del