Canonical Allele Identifier: CA572183653

Gene: AMZ1

Linked Data

• dbSNP Id: rs1319519878
• gnomAD v2: 7-2763335-GCAGA-G
• gnomAD v3: 7-2723701-GCAGA-G
• gnomAD v4: 7-2723701-GCAGA-G
• MyVariant Identifiers: chr7:g.2763336_2763339del (hg19) ; chr7:g.2723702_2723705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723705_2723708del , CM000669.2:g.2723705_2723708del	GRCh38
NC_000007.13:g.2763339_2763342del , CM000669.1:g.2763339_2763342del	GRCh37
NC_000007.12:g.2729865_2729868del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13889_550+13892del
XM_011515151.1:c.778+13889_778+13892del	XP_011513453.1:n.778+13889_778+13892del
NM_001321766.1:c.948+13889_948+13892del	NP_001308695.1:n.948+13889_948+13892del
XM_011515151.3:c.778+13889_778+13892del	XP_011513453.1:n.778+13889_778+13892del
XM_017011774.2:c.778+13889_778+13892del	XP_016867263.1:n.778+13889_778+13892del
NM_001321766.2:c.948+13889_948+13892del	NP_001308695.1:n.948+13889_948+13892del
NM_001384740.1:c.948+13889_948+13892del	NP_001371669.1:n.948+13889_948+13892del
NM_001384741.1:c.779-7316_779-7313del	NP_001371670.1:n.779-7316_779-7313del
NM_001384742.1:c.779-776_779-773del	NP_001371671.1:n.779-776_779-773del