Canonical Allele Identifier: CA1683312872

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723418_2723420delinsCAA , CM000669.2:g.2723418_2723420delinsCAA	GRCh38
NC_000007.13:g.2763052_2763054delinsCAA , CM000669.1:g.2763052_2763054delinsCAA	GRCh37
NC_000007.12:g.2729578_2729580delinsCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13602_550+13604delinsCAA
XM_011515151.1:c.778+13602_778+13604delinsCAA	XP_011513453.1:n.778+13602_778+13604delinsCAA
NM_001321766.1:c.948+13602_948+13604delinsCAA	NP_001308695.1:n.948+13602_948+13604delinsCAA
XM_011515151.3:c.778+13602_778+13604delinsCAA	XP_011513453.1:n.778+13602_778+13604delinsCAA
XM_017011774.2:c.778+13602_778+13604delinsCAA	XP_016867263.1:n.778+13602_778+13604delinsCAA
NM_001321766.2:c.948+13602_948+13604delinsCAA	NP_001308695.1:n.948+13602_948+13604delinsCAA
NM_001384740.1:c.948+13602_948+13604delinsCAA	NP_001371669.1:n.948+13602_948+13604delinsCAA
NM_001384741.1:c.779-7603_779-7601delinsCAA	NP_001371670.1:n.779-7603_779-7601delinsCAA
NM_001384742.1:c.779-1063_779-1061delinsCAA	NP_001371671.1:n.779-1063_779-1061delinsCAA