Canonical Allele Identifier: CA2638191306

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254497-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254499del , CM000679.2:g.44254499del	GRCh38
NC_000017.10:g.42331867del , CM000679.1:g.42331867del	GRCh37
NC_000017.9:g.39687393del	NCBI36
NG_007498.1:g.18637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2055del MANE Select	ENSP00000262418.6:p.Thr686ArgfsTer2
ENST00000262418.10:c.2055del	ENSP00000262418.6:p.Thr686ArgfsTer2
ENST00000399246.3:c.957del	ENSP00000382190.3:p.Thr320ArgfsTer2
NM_000342.3:c.2055del	NP_000333.1:p.Thr686ArgfsTer2
XM_005257593.3:c.1860del	XP_005257650.1:p.Thr621ArgfsTer2
XM_011525129.1:c.1965del	XP_011523431.1:p.Thr656ArgfsTer2
XM_011525130.1:c.2055del	XP_011523432.1:p.Thr686ArgfsTer2
XM_011525131.1:c.2055del	XP_011523433.1:p.Thr686LeufsTer?
XM_005257593.5:c.1860del	XP_005257650.1:p.Thr621ArgfsTer2
XM_011525129.2:c.1965del	XP_011523431.1:p.Thr656ArgfsTer2
NM_000342.4:c.2055del MANE Select	NP_000333.1:p.Thr686ArgfsTer2