Canonical Allele Identifier: CA1683313055

Gene: AMZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723701_2723705delinsGCAGA , CM000669.2:g.2723701_2723705delinsGCAGA	GRCh38
NC_000007.13:g.2763335_2763339delinsGCAGA , CM000669.1:g.2763335_2763339delinsGCAGA	GRCh37
NC_000007.12:g.2729861_2729865delinsGCAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13885_550+13889delinsGCAGA
XM_011515151.1:c.778+13885_778+13889delinsGCAGA	XP_011513453.1:n.778+13885_778+13889delinsGCAGA
NM_001321766.1:c.948+13885_948+13889delinsGCAGA	NP_001308695.1:n.948+13885_948+13889delinsGCAGA
XM_011515151.3:c.778+13885_778+13889delinsGCAGA	XP_011513453.1:n.778+13885_778+13889delinsGCAGA
XM_017011774.2:c.778+13885_778+13889delinsGCAGA	XP_016867263.1:n.778+13885_778+13889delinsGCAGA
NM_001321766.2:c.948+13885_948+13889delinsGCAGA	NP_001308695.1:n.948+13885_948+13889delinsGCAGA
NM_001384740.1:c.948+13885_948+13889delinsGCAGA	NP_001371669.1:n.948+13885_948+13889delinsGCAGA
NM_001384741.1:c.779-7320_779-7316delinsGCAGA	NP_001371670.1:n.779-7320_779-7316delinsGCAGA
NM_001384742.1:c.779-780_779-776delinsGCAGA	NP_001371671.1:n.779-780_779-776delinsGCAGA