Canonical Allele Identifier: CA2499226800

Gene: AMER1

Linked Data

• ClinVar Variation Id: 1219202
• ClinVar RCV Id: RCV001588291
• dbSNP Id: rs2147089573

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192419_64192420del , CM000685.2:g.64192419_64192420del	GRCh38
NC_000023.10:g.63412299_63412300del , CM000685.1:g.63412299_63412300del	GRCh37
NC_000023.9:g.63329024_63329025del	NCBI36
NG_021345.1:g.18325_18326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.867_868del MANE Select	ENSP00000364003.4:p.Lys292GlyfsTer?
ENST00000330258.3:c.867_868del	ENSP00000329117.3:p.Lys292GlyfsTer?
ENST00000374869.7:c.867_868del	ENSP00000364003.3:p.Lys292GlyfsTer?
NM_152424.3:c.867_868del	NP_689637.3:p.Lys292GlyfsTer?
XM_011530858.1:c.867_868del	XP_011529160.1:p.Lys292GlyfsTer?
NM_152424.4:c.867_868del MANE Select	NP_689637.3:p.Lys292GlyfsTer?