Canonical Allele Identifier: CA1097636252

Gene: AMZ1

Linked Data

• dbSNP Id: rs1789500573
• gnomAD v3: 7-2723423-T-TC
• gnomAD v4: 7-2723423-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723424dup , CM000669.2:g.2723424dup	GRCh38
NC_000007.13:g.2763058dup , CM000669.1:g.2763058dup	GRCh37
NC_000007.12:g.2729584dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13608dup
XM_011515151.1:c.778+13608dup	XP_011513453.1:n.778+13608dup
NM_001321766.1:c.948+13608dup	NP_001308695.1:n.948+13608dup
XM_011515151.3:c.778+13608dup	XP_011513453.1:n.778+13608dup
XM_017011774.2:c.778+13608dup	XP_016867263.1:n.778+13608dup
NM_001321766.2:c.948+13608dup	NP_001308695.1:n.948+13608dup
NM_001384740.1:c.948+13608dup	NP_001371669.1:n.948+13608dup
NM_001384741.1:c.779-7597dup	NP_001371670.1:n.779-7597dup
NM_001384742.1:c.779-1057dup	NP_001371671.1:n.779-1057dup