Canonical Allele Identifier: CA2695226322

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254564del , CM000679.2:g.44254564del	GRCh38
NC_000017.10:g.42331932del , CM000679.1:g.42331932del	GRCh37
NC_000017.9:g.39687458del	NCBI36
NG_007498.1:g.18571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1989del MANE Select	ENSP00000262418.6:p.Met663IlefsTer25
ENST00000262418.10:c.1989del	ENSP00000262418.6:p.Met663IlefsTer25
ENST00000399246.3:c.891del	ENSP00000382190.3:p.Met297IlefsTer25
NM_000342.3:c.1989del	NP_000333.1:p.Met663IlefsTer25
XM_005257593.3:c.1794del	XP_005257650.1:p.Met598IlefsTer25
XM_011525129.1:c.1899del	XP_011523431.1:p.Met633IlefsTer25
XM_011525130.1:c.1989del	XP_011523432.1:p.Met663IlefsTer25
XM_011525131.1:c.1989del	XP_011523433.1:p.Met663IlefsTer?
XM_005257593.5:c.1794del	XP_005257650.1:p.Met598IlefsTer25
XM_011525129.2:c.1899del	XP_011523431.1:p.Met633IlefsTer25
NM_000342.4:c.1989del MANE Select	NP_000333.1:p.Met663IlefsTer25