Canonical Allele Identifier: CA2638191239

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254467-CCAGGCCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254469_44254477del , CM000679.2:g.44254469_44254477del	GRCh38
NC_000017.10:g.42331837_42331845del , CM000679.1:g.42331837_42331845del	GRCh37
NC_000017.9:g.39687363_39687371del	NCBI36
NG_007498.1:g.18659_18667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+20_2057+28del MANE Select	ENSP00000262418.6:n.2057+20_2057+28del
ENST00000262418.10:c.2057+20_2057+28del	ENSP00000262418.6:n.2057+20_2057+28del
ENST00000399246.3:c.959+20_959+28del	ENSP00000382190.3:n.959+20_959+28del
NM_000342.3:c.2057+20_2057+28del	NP_000333.1:n.2057+20_2057+28del
XM_005257593.3:c.1862+20_1862+28del	XP_005257650.1:n.1862+20_1862+28del
XM_011525129.1:c.1967+20_1967+28del	XP_011523431.1:n.1967+20_1967+28del
XM_011525130.1:c.2057+20_2057+28del	XP_011523432.1:n.2057+20_2057+28del
XM_011525131.1:c.2057+20_2057+28del	XP_011523433.1:n.2057+20_2057+28del
XM_005257593.5:c.1862+20_1862+28del	XP_005257650.1:n.1862+20_1862+28del
XM_011525129.2:c.1967+20_1967+28del	XP_011523431.1:n.1967+20_1967+28del
NM_000342.4:c.2057+20_2057+28del MANE Select	NP_000333.1:n.2057+20_2057+28del