Canonical Allele Identifier: CA152715786

Gene: AMZ1

Linked Data

• dbSNP Id: rs934566805
• gnomAD v3: 7-2723464-CCTT-C
• gnomAD v4: 7-2723464-CCTT-C
• MyVariant Identifiers: chr7:g.2763099_2763101del (hg19) ; chr7:g.2723465_2723467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2723468_2723470del , CM000669.2:g.2723468_2723470del	GRCh38
NC_000007.13:g.2763102_2763104del , CM000669.1:g.2763102_2763104del	GRCh37
NC_000007.12:g.2729628_2729630del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489665.1:n.550+13652_550+13654del
XM_011515151.1:c.778+13652_778+13654del	XP_011513453.1:n.778+13652_778+13654del
NM_001321766.1:c.948+13652_948+13654del	NP_001308695.1:n.948+13652_948+13654del
XM_011515151.3:c.778+13652_778+13654del	XP_011513453.1:n.778+13652_778+13654del
XM_017011774.2:c.778+13652_778+13654del	XP_016867263.1:n.778+13652_778+13654del
NM_001321766.2:c.948+13652_948+13654del	NP_001308695.1:n.948+13652_948+13654del
NM_001384740.1:c.948+13652_948+13654del	NP_001371669.1:n.948+13652_948+13654del
NM_001384741.1:c.779-7553_779-7551del	NP_001371670.1:n.779-7553_779-7551del
NM_001384742.1:c.779-1013_779-1011del	NP_001371671.1:n.779-1013_779-1011del