Canonical Allele Identifier: CA837193329

Gene: AMZ1

Linked Data

• dbSNP Id: rs1206526540
• gnomAD v3: 7-2723418-CAA-C
• gnomAD v4: 7-2723418-CAA-C
• MyVariant Identifiers: chr7:g.2763053_2763054del (hg19) ; chr7:g.2723419_2723420del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723420_2723421del , CM000669.2:g.2723420_2723421del	GRCh38
NC_000007.13:g.2763054_2763055del , CM000669.1:g.2763054_2763055del	GRCh37
NC_000007.12:g.2729580_2729581del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13604_550+13605del
XM_011515151.1:c.778+13604_778+13605del	XP_011513453.1:n.778+13604_778+13605del
NM_001321766.1:c.948+13604_948+13605del	NP_001308695.1:n.948+13604_948+13605del
XM_011515151.3:c.778+13604_778+13605del	XP_011513453.1:n.778+13604_778+13605del
XM_017011774.2:c.778+13604_778+13605del	XP_016867263.1:n.778+13604_778+13605del
NM_001321766.2:c.948+13604_948+13605del	NP_001308695.1:n.948+13604_948+13605del
NM_001384740.1:c.948+13604_948+13605del	NP_001371669.1:n.948+13604_948+13605del
NM_001384741.1:c.779-7601_779-7600del	NP_001371670.1:n.779-7601_779-7600del
NM_001384742.1:c.779-1061_779-1060del	NP_001371671.1:n.779-1061_779-1060del