Canonical Allele Identifier: CA2638191288

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254482-ACCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254483_44254486del , CM000679.2:g.44254483_44254486del	GRCh38
NC_000017.10:g.42331851_42331854del , CM000679.1:g.42331851_42331854del	GRCh37
NC_000017.9:g.39687377_39687380del	NCBI36
NG_007498.1:g.18649_18652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+10_2057+13del MANE Select	ENSP00000262418.6:n.2057+10_2057+13del
ENST00000262418.10:c.2057+10_2057+13del	ENSP00000262418.6:n.2057+10_2057+13del
ENST00000399246.3:c.959+10_959+13del	ENSP00000382190.3:n.959+10_959+13del
NM_000342.3:c.2057+10_2057+13del	NP_000333.1:n.2057+10_2057+13del
XM_005257593.3:c.1862+10_1862+13del	XP_005257650.1:n.1862+10_1862+13del
XM_011525129.1:c.1967+10_1967+13del	XP_011523431.1:n.1967+10_1967+13del
XM_011525130.1:c.2057+10_2057+13del	XP_011523432.1:n.2057+10_2057+13del
XM_011525131.1:c.2057+10_2057+13del	XP_011523433.1:n.2057+10_2057+13del
XM_005257593.5:c.1862+10_1862+13del	XP_005257650.1:n.1862+10_1862+13del
XM_011525129.2:c.1967+10_1967+13del	XP_011523431.1:n.1967+10_1967+13del
NM_000342.4:c.2057+10_2057+13del MANE Select	NP_000333.1:n.2057+10_2057+13del