Canonical Allele Identifier: CA1686223839

Gene: UMAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739592_7739596delinsCTGTT , CM000669.2:g.7739592_7739596delinsCTGTT	GRCh38
NC_000007.13:g.7779223_7779227delinsCTGTT , CM000669.1:g.7779223_7779227delinsCTGTT	GRCh37
NC_000007.12:g.7745748_7745752delinsCTGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-62078_83-62074delinsCTGTT MANE Select	ENSP00000507605.1:n.83-62078_83-62074delinsCTGTT
ENST00000418534.3:n.601-612_601-608delinsAACAG
ENST00000463725.5:n.323-62078_323-62074delinsCTGTT
ENST00000482067.3:n.174-62078_174-62074delinsCTGTT
ENST00000599208.1:n.436-612_436-608delinsAACAG
ENST00000628552.1:n.239-612_239-608delinsAACAG
ENST00000636849.1:c.83-62078_83-62074delinsCTGTT	ENSP00000489648.1:n.83-62078_83-62074delinsCTGTT
ENST00000638342.1:c.83-62078_83-62074delinsCTGTT	ENSP00000491286.1:n.83-62078_83-62074delinsCTGTT
ENST00000639110.1:c.83-62078_83-62074delinsCTGTT	ENSP00000491319.1:n.83-62078_83-62074delinsCTGTT
ENST00000639343.1:c.263+701_263+705delinsCTGTT	ENSP00000491077.1:n.263+701_263+705delinsCTGTT
NM_001302348.1:c.83-62078_83-62074delinsCTGTT	NP_001289277.1:n.83-62078_83-62074delinsCTGTT
NM_001302349.1:c.83-62078_83-62074delinsCTGTT	NP_001289278.1:n.83-62078_83-62074delinsCTGTT
NM_001302350.1:c.-23-62078_-23-62074delinsCTGTT	NP_001289279.1:n.-23-62078_-23-62074delinsCTGTT
XR_927014.1:n.182-612_182-608delinsAACAG
NM_001302348.2:c.83-62078_83-62074delinsCTGTT MANE Select	NP_001289277.1:n.83-62078_83-62074delinsCTGTT
NM_001302349.2:c.83-62078_83-62074delinsCTGTT	NP_001289278.1:n.83-62078_83-62074delinsCTGTT
NM_001302350.2:c.-23-62078_-23-62074delinsCTGTT	NP_001289279.1:n.-23-62078_-23-62074delinsCTGTT