Canonical Allele Identifier: CA2591050484

Gene: AMZ1

Linked Data

• dbSNP Id: rs2115250489
• gnomAD v3: 7-2723623-G-GC
• gnomAD v4: 7-2723623-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723628dup , CM000669.2:g.2723628dup	GRCh38
NC_000007.13:g.2763262dup , CM000669.1:g.2763262dup	GRCh37
NC_000007.12:g.2729788dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13812dup
XM_011515151.1:c.778+13812dup	XP_011513453.1:n.778+13812dup
NM_001321766.1:c.948+13812dup	NP_001308695.1:n.948+13812dup
XM_011515151.3:c.778+13812dup	XP_011513453.1:n.778+13812dup
XM_017011774.2:c.778+13812dup	XP_016867263.1:n.778+13812dup
NM_001321766.2:c.948+13812dup	NP_001308695.1:n.948+13812dup
NM_001384740.1:c.948+13812dup	NP_001371669.1:n.948+13812dup
NM_001384741.1:c.779-7393dup	NP_001371670.1:n.779-7393dup
NM_001384742.1:c.779-853dup	NP_001371671.1:n.779-853dup