Canonical Allele Identifier: CA1686223905

Gene: UMAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739711_7739713delinsCTG , CM000669.2:g.7739711_7739713delinsCTG	GRCh38
NC_000007.13:g.7779342_7779344delinsCTG , CM000669.1:g.7779342_7779344delinsCTG	GRCh37
NC_000007.12:g.7745867_7745869delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-61959_83-61957delinsCTG MANE Select	ENSP00000507605.1:n.83-61959_83-61957delinsCTG
ENST00000418534.3:n.601-729_601-727delinsCAG
ENST00000463725.5:n.323-61959_323-61957delinsCTG
ENST00000482067.3:n.174-61959_174-61957delinsCTG
ENST00000599208.1:n.436-729_436-727delinsCAG
ENST00000628552.1:n.239-729_239-727delinsCAG
ENST00000636849.1:c.83-61959_83-61957delinsCTG	ENSP00000489648.1:n.83-61959_83-61957delinsCTG
ENST00000638342.1:c.83-61959_83-61957delinsCTG	ENSP00000491286.1:n.83-61959_83-61957delinsCTG
ENST00000639110.1:c.83-61959_83-61957delinsCTG	ENSP00000491319.1:n.83-61959_83-61957delinsCTG
ENST00000639343.1:c.263+820_263+822delinsCTG	ENSP00000491077.1:n.263+820_263+822delinsCTG
NM_001302348.1:c.83-61959_83-61957delinsCTG	NP_001289277.1:n.83-61959_83-61957delinsCTG
NM_001302349.1:c.83-61959_83-61957delinsCTG	NP_001289278.1:n.83-61959_83-61957delinsCTG
NM_001302350.1:c.-23-61959_-23-61957delinsCTG	NP_001289279.1:n.-23-61959_-23-61957delinsCTG
XR_927014.1:n.182-729_182-727delinsCAG
NM_001302348.2:c.83-61959_83-61957delinsCTG MANE Select	NP_001289277.1:n.83-61959_83-61957delinsCTG
NM_001302349.2:c.83-61959_83-61957delinsCTG	NP_001289278.1:n.83-61959_83-61957delinsCTG
NM_001302350.2:c.-23-61959_-23-61957delinsCTG	NP_001289279.1:n.-23-61959_-23-61957delinsCTG