Canonical Allele Identifier: CA560690083

Gene: JMY

Linked Data

• dbSNP Id: rs1302418238
• gnomAD v2: 5-78558004-ATCT-A
• gnomAD v3: 5-79262181-ATCT-A
• gnomAD v4: 5-79262181-ATCT-A
• MyVariant Identifiers: chr5:g.78558005_78558007del (hg19) ; chr5:g.79262182_79262184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79262185_79262187del , CM000667.2:g.79262185_79262187del	GRCh38
NC_000005.9:g.78558008_78558010del , CM000667.1:g.78558008_78558010del	GRCh37
NC_000005.8:g.78593764_78593766del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396137.5:c.1033-15725_1033-15723del MANE Select	ENSP00000379441.4:n.1033-15725_1033-15723del
ENST00000396137.4:c.1033-15725_1033-15723del	ENSP00000379441.4:n.1033-15725_1033-15723del
NM_152405.4:c.1033-15725_1033-15723del	NP_689618.4:n.1033-15725_1033-15723del
XM_005248430.1:c.1033-15725_1033-15723del	XP_005248487.1:n.1033-15725_1033-15723del
XM_011543155.1:c.1033-15725_1033-15723del	XP_011541457.1:n.1033-15725_1033-15723del
XM_005248430.3:c.1033-15725_1033-15723del	XP_005248487.1:n.1033-15725_1033-15723del
XM_011543155.3:c.1033-15725_1033-15723del	XP_011541457.1:n.1033-15725_1033-15723del
NM_152405.5:c.1033-15725_1033-15723del MANE Select	NP_689618.4:n.1033-15725_1033-15723del