Canonical Allele Identifier: CA2591050483

Gene: AMZ1

Linked Data

• dbSNP Id: rs2115250486
• gnomAD v3: 7-2723620-CATG-C
• gnomAD v4: 7-2723620-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723621_2723623del , CM000669.2:g.2723621_2723623del	GRCh38
NC_000007.13:g.2763255_2763257del , CM000669.1:g.2763255_2763257del	GRCh37
NC_000007.12:g.2729781_2729783del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13805_550+13807del
XM_011515151.1:c.778+13805_778+13807del	XP_011513453.1:n.778+13805_778+13807del
NM_001321766.1:c.948+13805_948+13807del	NP_001308695.1:n.948+13805_948+13807del
XM_011515151.3:c.778+13805_778+13807del	XP_011513453.1:n.778+13805_778+13807del
XM_017011774.2:c.778+13805_778+13807del	XP_016867263.1:n.778+13805_778+13807del
NM_001321766.2:c.948+13805_948+13807del	NP_001308695.1:n.948+13805_948+13807del
NM_001384740.1:c.948+13805_948+13807del	NP_001371669.1:n.948+13805_948+13807del
NM_001384741.1:c.779-7400_779-7398del	NP_001371670.1:n.779-7400_779-7398del
NM_001384742.1:c.779-860_779-858del	NP_001371671.1:n.779-860_779-858del