Canonical Allele Identifier: CA837193623

Gene: AMZ1

Linked Data

• dbSNP Id: rs1464396615
• MyVariant Identifiers: chr7:g.2763399_2763400del (hg19) ; chr7:g.2723765_2723766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723768_2723769del , CM000669.2:g.2723768_2723769del	GRCh38
NC_000007.13:g.2763402_2763403del , CM000669.1:g.2763402_2763403del	GRCh37
NC_000007.12:g.2729928_2729929del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13952_550+13953del
XM_011515151.1:c.778+13952_778+13953del	XP_011513453.1:n.778+13952_778+13953del
NM_001321766.1:c.948+13952_948+13953del	NP_001308695.1:n.948+13952_948+13953del
XM_011515151.3:c.778+13952_778+13953del	XP_011513453.1:n.778+13952_778+13953del
XM_017011774.2:c.778+13952_778+13953del	XP_016867263.1:n.778+13952_778+13953del
NM_001321766.2:c.948+13952_948+13953del	NP_001308695.1:n.948+13952_948+13953del
NM_001384740.1:c.948+13952_948+13953del	NP_001371669.1:n.948+13952_948+13953del
NM_001384741.1:c.779-7253_779-7252del	NP_001371670.1:n.779-7253_779-7252del
NM_001384742.1:c.779-713_779-712del	NP_001371671.1:n.779-713_779-712del