Canonical Allele Identifier: CA1683313078

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723732_2723743delinsGGCACCGCGGCT , CM000669.2:g.2723732_2723743delinsGGCACCGCGGCT	GRCh38
NC_000007.13:g.2763366_2763377delinsGGCACCGCGGCT , CM000669.1:g.2763366_2763377delinsGGCACCGCGGCT	GRCh37
NC_000007.12:g.2729892_2729903delinsGGCACCGCGGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13916_550+13927delinsGGCACCGCGGCT
XM_011515151.1:c.778+13916_778+13927delinsGGCACCGCGGCT	XP_011513453.1:n.778+13916_778+13927delinsGGCACCGCGGCT
NM_001321766.1:c.948+13916_948+13927delinsGGCACCGCGGCT	NP_001308695.1:n.948+13916_948+13927delinsGGCACCGCGGCT
XM_011515151.3:c.778+13916_778+13927delinsGGCACCGCGGCT	XP_011513453.1:n.778+13916_778+13927delinsGGCACCGCGGCT
XM_017011774.2:c.778+13916_778+13927delinsGGCACCGCGGCT	XP_016867263.1:n.778+13916_778+13927delinsGGCACCGCGGCT
NM_001321766.2:c.948+13916_948+13927delinsGGCACCGCGGCT	NP_001308695.1:n.948+13916_948+13927delinsGGCACCGCGGCT
NM_001384740.1:c.948+13916_948+13927delinsGGCACCGCGGCT	NP_001371669.1:n.948+13916_948+13927delinsGGCACCGCGGCT
NM_001384741.1:c.779-7289_779-7278delinsGGCACCGCGGCT	NP_001371670.1:n.779-7289_779-7278delinsGGCACCGCGGCT
NM_001384742.1:c.779-749_779-738delinsGGCACCGCGGCT	NP_001371671.1:n.779-749_779-738delinsGGCACCGCGGCT