Canonical Allele Identifier: CA1683312897

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723471_2723474delinsTGAG , CM000669.2:g.2723471_2723474delinsTGAG	GRCh38
NC_000007.13:g.2763105_2763108delinsTGAG , CM000669.1:g.2763105_2763108delinsTGAG	GRCh37
NC_000007.12:g.2729631_2729634delinsTGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13655_550+13658delinsTGAG
XM_011515151.1:c.778+13655_778+13658delinsTGAG	XP_011513453.1:n.778+13655_778+13658delinsTGAG
NM_001321766.1:c.948+13655_948+13658delinsTGAG	NP_001308695.1:n.948+13655_948+13658delinsTGAG
XM_011515151.3:c.778+13655_778+13658delinsTGAG	XP_011513453.1:n.778+13655_778+13658delinsTGAG
XM_017011774.2:c.778+13655_778+13658delinsTGAG	XP_016867263.1:n.778+13655_778+13658delinsTGAG
NM_001321766.2:c.948+13655_948+13658delinsTGAG	NP_001308695.1:n.948+13655_948+13658delinsTGAG
NM_001384740.1:c.948+13655_948+13658delinsTGAG	NP_001371669.1:n.948+13655_948+13658delinsTGAG
NM_001384741.1:c.779-7550_779-7547delinsTGAG	NP_001371670.1:n.779-7550_779-7547delinsTGAG
NM_001384742.1:c.779-1010_779-1007delinsTGAG	NP_001371671.1:n.779-1010_779-1007delinsTGAG