Canonical Allele Identifier: CA572183619

Gene: AMZ1

Linked Data

• dbSNP Id: rs1789501797
• gnomAD v2: 7-2763102-CTTT-C
• gnomAD v3: 7-2723468-CTTT-C
• gnomAD v4: 7-2723468-CTTT-C
• MyVariant Identifiers: chr7:g.2763103_2763105del (hg19) ; chr7:g.2723469_2723471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723469_2723471del , CM000669.2:g.2723469_2723471del	GRCh38
NC_000007.13:g.2763103_2763105del , CM000669.1:g.2763103_2763105del	GRCh37
NC_000007.12:g.2729629_2729631del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000489665.1:n.550+13653_550+13655del
XM_011515151.1:c.778+13653_778+13655del	XP_011513453.1:n.778+13653_778+13655del
NM_001321766.1:c.948+13653_948+13655del	NP_001308695.1:n.948+13653_948+13655del
XM_011515151.3:c.778+13653_778+13655del	XP_011513453.1:n.778+13653_778+13655del
XM_017011774.2:c.778+13653_778+13655del	XP_016867263.1:n.778+13653_778+13655del
NM_001321766.2:c.948+13653_948+13655del	NP_001308695.1:n.948+13653_948+13655del
NM_001384740.1:c.948+13653_948+13655del	NP_001371669.1:n.948+13653_948+13655del
NM_001384741.1:c.779-7552_779-7550del	NP_001371670.1:n.779-7552_779-7550del
NM_001384742.1:c.779-1012_779-1010del	NP_001371671.1:n.779-1012_779-1010del