Canonical Allele Identifier: CA842493369

Gene: UMAD1

Linked Data

• dbSNP Id: rs1306536450
• gnomAD v3: 7-7809410-CTT-C
• gnomAD v4: 7-7809410-CTT-C
• MyVariant Identifiers: chr7:g.7849042_7849043del (hg19) ; chr7:g.7809411_7809412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7809413_7809414del , CM000669.2:g.7809413_7809414del	GRCh38
NC_000007.13:g.7849044_7849045del , CM000669.1:g.7849044_7849045del	GRCh37
NC_000007.12:g.7815569_7815570del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.156+7670_156+7671del MANE Select	ENSP00000507605.1:n.156+7670_156+7671del
ENST00000406829.2:n.168+7670_168+7671del
ENST00000463725.5:n.396+7670_396+7671del
ENST00000482067.3:n.247+7670_247+7671del
ENST00000636849.1:c.156+7670_156+7671del	ENSP00000489648.1:n.156+7670_156+7671del
ENST00000638342.1:c.156+7670_156+7671del	ENSP00000491286.1:n.156+7670_156+7671del
ENST00000639110.1:c.156+7670_156+7671del	ENSP00000491319.1:n.156+7670_156+7671del
ENST00000639343.1:c.*58+7670_*58+7671del	ENSP00000491077.1:n.*58+7670_*58+7671del
NM_001302348.1:c.156+7670_156+7671del	NP_001289277.1:n.156+7670_156+7671del
NM_001302349.1:c.156+7670_156+7671del	NP_001289278.1:n.156+7670_156+7671del
NM_001302350.1:c.51+7670_51+7671del	NP_001289279.1:n.51+7670_51+7671del
NM_001302348.2:c.156+7670_156+7671del MANE Select	NP_001289277.1:n.156+7670_156+7671del
NM_001302349.2:c.156+7670_156+7671del	NP_001289278.1:n.156+7670_156+7671del
NM_001302350.2:c.51+7670_51+7671del	NP_001289279.1:n.51+7670_51+7671del