Canonical Allele Identifier: CA2626675192

Gene: AMN

Linked Data

• gnomAD v4: 14-102922704-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922707dup , CM000676.2:g.102922707dup	GRCh38
NC_000014.8:g.103389044dup , CM000676.1:g.103389044dup	GRCh37
NC_000014.7:g.102458797dup	NCBI36
NG_008276.2:g.5052dup , LRG_642:g.5052dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.19dup MANE Select	ENSP00000299155.6:p.Val7GlyfsTer?
ENST00000299155.9:c.19dup	ENSP00000299155.5:p.Val7GlyfsTer?
NM_030943.3:c.19dup , LRG_642t1:c.19dup	NP_112205.2:p.Val7GlyfsTer?
XM_011537202.1:c.-163dup	XP_011535504.1:n.-163dup
XM_011537202.3:c.-163dup	XP_011535504.1:n.-163dup
XM_024449714.1:c.115dup	XP_024305482.1:p.Val39GlyfsTer?
NM_030943.4:c.19dup MANE Select	NP_112205.2:p.Val7GlyfsTer?