Canonical Allele Identifier: CA1686250867
Gene: UMAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7809194_7809206delinsAAGGATTTAAGGG , CM000669.2:g.7809194_7809206delinsAAGGATTTAAGGG GRCh38
NC_000007.13:g.7848825_7848837delinsAAGGATTTAAGGG , CM000669.1:g.7848825_7848837delinsAAGGATTTAAGGG GRCh37
NC_000007.12:g.7815350_7815362delinsAAGGATTTAAGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682710.1:c.156+7451_156+7463delinsAAGGATTTAAGGG MANE Select ENSP00000507605.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
ENST00000406829.2:n.168+7451_168+7463delinsAAGGATTTAAGGG
ENST00000463725.5:n.396+7451_396+7463delinsAAGGATTTAAGGG
ENST00000482067.3:n.247+7451_247+7463delinsAAGGATTTAAGGG
ENST00000636849.1:c.156+7451_156+7463delinsAAGGATTTAAGGG ENSP00000489648.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
ENST00000638342.1:c.156+7451_156+7463delinsAAGGATTTAAGGG ENSP00000491286.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
ENST00000639110.1:c.156+7451_156+7463delinsAAGGATTTAAGGG ENSP00000491319.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
ENST00000639343.1:c.*58+7451_*58+7463delinsAAGGATTTAAGGG ENSP00000491077.1:n.*58+7451_*58+7463delinsAAGGATTTAAGGG
NM_001302348.1:c.156+7451_156+7463delinsAAGGATTTAAGGG NP_001289277.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
NM_001302349.1:c.156+7451_156+7463delinsAAGGATTTAAGGG NP_001289278.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
NM_001302350.1:c.51+7451_51+7463delinsAAGGATTTAAGGG NP_001289279.1:n.51+7451_51+7463delinsAAGGATTTAAGGG
NM_001302348.2:c.156+7451_156+7463delinsAAGGATTTAAGGG MANE Select NP_001289277.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
NM_001302349.2:c.156+7451_156+7463delinsAAGGATTTAAGGG NP_001289278.1:n.156+7451_156+7463delinsAAGGATTTAAGGG
NM_001302350.2:c.51+7451_51+7463delinsAAGGATTTAAGGG NP_001289279.1:n.51+7451_51+7463delinsAAGGATTTAAGGG