Canonical Allele Identifier: CA2638191133

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254456-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254456_44254457insA , CM000679.2:g.44254456_44254457insA	GRCh38
NC_000017.10:g.42331824_42331825insA , CM000679.1:g.42331824_42331825insA	GRCh37
NC_000017.9:g.39687350_39687351insA	NCBI36
NG_007498.1:g.18678_18679insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2057+39_2057+40insT MANE Select	ENSP00000262418.6:n.2057+39_2057+40insT
ENST00000262418.10:c.2057+39_2057+40insT	ENSP00000262418.6:n.2057+39_2057+40insT
ENST00000399246.3:c.959+39_959+40insT	ENSP00000382190.3:n.959+39_959+40insT
NM_000342.3:c.2057+39_2057+40insT	NP_000333.1:n.2057+39_2057+40insT
XM_005257593.3:c.1862+39_1862+40insT	XP_005257650.1:n.1862+39_1862+40insT
XM_011525129.1:c.1967+39_1967+40insT	XP_011523431.1:n.1967+39_1967+40insT
XM_011525130.1:c.2057+39_2057+40insT	XP_011523432.1:n.2057+39_2057+40insT
XM_011525131.1:c.2057+39_2057+40insT	XP_011523433.1:n.2057+39_2057+40insT
XM_005257593.5:c.1862+39_1862+40insT	XP_005257650.1:n.1862+39_1862+40insT
XM_011525129.2:c.1967+39_1967+40insT	XP_011523431.1:n.1967+39_1967+40insT
NM_000342.4:c.2057+39_2057+40insT MANE Select	NP_000333.1:n.2057+39_2057+40insT