Canonical Allele Identifier: CA2532159788

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723788_2723821del , CM000669.2:g.2723788_2723821del	GRCh38
NC_000007.13:g.2763422_2763455del , CM000669.1:g.2763422_2763455del	GRCh37
NC_000007.12:g.2729948_2729981del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13972_550+14005del
XM_011515151.1:c.778+13972_778+14005del	XP_011513453.1:n.778+13972_778+14005del
NM_001321766.1:c.948+13972_948+14005del	NP_001308695.1:n.948+13972_948+14005del
XM_011515151.3:c.778+13972_778+14005del	XP_011513453.1:n.778+13972_778+14005del
XM_017011774.2:c.778+13972_778+14005del	XP_016867263.1:n.778+13972_778+14005del
NM_001321766.2:c.948+13972_948+14005del	NP_001308695.1:n.948+13972_948+14005del
NM_001384740.1:c.948+13972_948+14005del	NP_001371669.1:n.948+13972_948+14005del
NM_001384741.1:c.779-7233_779-7200del	NP_001371670.1:n.779-7233_779-7200del
NM_001384742.1:c.779-693_779-660del	NP_001371671.1:n.779-693_779-660del