Canonical Allele Identifier: CA842415284

Gene: UMAD1

Linked Data

• dbSNP Id: rs1479693236
• gnomAD v3: 7-7739869-CTTAT-C
• gnomAD v4: 7-7739869-CTTAT-C
• MyVariant Identifiers: chr7:g.7779501_7779504del (hg19) ; chr7:g.7739870_7739873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739872_7739875del , CM000669.2:g.7739872_7739875del	GRCh38
NC_000007.13:g.7779503_7779506del , CM000669.1:g.7779503_7779506del	GRCh37
NC_000007.12:g.7746028_7746031del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-61798_83-61795del MANE Select	ENSP00000507605.1:n.83-61798_83-61795del
ENST00000418534.3:n.601-889_601-886del
ENST00000463725.5:n.323-61798_323-61795del
ENST00000482067.3:n.174-61798_174-61795del
ENST00000599208.1:n.435+813_435+816del
ENST00000628552.1:n.238+813_238+816del
ENST00000636849.1:c.83-61798_83-61795del	ENSP00000489648.1:n.83-61798_83-61795del
ENST00000638342.1:c.83-61798_83-61795del	ENSP00000491286.1:n.83-61798_83-61795del
ENST00000639110.1:c.83-61798_83-61795del	ENSP00000491319.1:n.83-61798_83-61795del
ENST00000639343.1:c.263+981_263+984del	ENSP00000491077.1:n.263+981_263+984del
NM_001302348.1:c.83-61798_83-61795del	NP_001289277.1:n.83-61798_83-61795del
NM_001302349.1:c.83-61798_83-61795del	NP_001289278.1:n.83-61798_83-61795del
NM_001302350.1:c.-23-61798_-23-61795del	NP_001289279.1:n.-23-61798_-23-61795del
XR_927014.1:n.182-889_182-886del
NM_001302348.2:c.83-61798_83-61795del MANE Select	NP_001289277.1:n.83-61798_83-61795del
NM_001302349.2:c.83-61798_83-61795del	NP_001289278.1:n.83-61798_83-61795del
NM_001302350.2:c.-23-61798_-23-61795del	NP_001289279.1:n.-23-61798_-23-61795del