Canonical Allele Identifier: CA842415192

Gene: UMAD1

Linked Data

• dbSNP Id: rs1184120908
• gnomAD v3: 7-7739465-T-TGAACAAG
• gnomAD v4: 7-7739465-T-TGAACAAG
• MyVariant Identifiers: chr7:g.7779096_7779097insGAACAAG (hg19) ; chr7:g.7739465_7739466insGAACAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739465_7739466insGAACAAG , CM000669.2:g.7739465_7739466insGAACAAG	GRCh38
NC_000007.13:g.7779096_7779097insGAACAAG , CM000669.1:g.7779096_7779097insGAACAAG	GRCh37
NC_000007.12:g.7745621_7745622insGAACAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-62205_83-62204insGAACAAG MANE Select	ENSP00000507605.1:n.83-62205_83-62204insGAACAAG
ENST00000418534.3:n.601-482_601-481insCTTGTTC
ENST00000463725.5:n.323-62205_323-62204insGAACAAG
ENST00000482067.3:n.174-62205_174-62204insGAACAAG
ENST00000599208.1:n.436-482_436-481insCTTGTTC
ENST00000628552.1:n.239-482_239-481insCTTGTTC
ENST00000636849.1:c.83-62205_83-62204insGAACAAG	ENSP00000489648.1:n.83-62205_83-62204insGAACAAG
ENST00000638342.1:c.83-62205_83-62204insGAACAAG	ENSP00000491286.1:n.83-62205_83-62204insGAACAAG
ENST00000639110.1:c.83-62205_83-62204insGAACAAG	ENSP00000491319.1:n.83-62205_83-62204insGAACAAG
ENST00000639343.1:c.263+574_263+575insGAACAAG	ENSP00000491077.1:n.263+574_263+575insGAACAAG
NM_001302348.1:c.83-62205_83-62204insGAACAAG	NP_001289277.1:n.83-62205_83-62204insGAACAAG
NM_001302349.1:c.83-62205_83-62204insGAACAAG	NP_001289278.1:n.83-62205_83-62204insGAACAAG
NM_001302350.1:c.-23-62205_-23-62204insGAACAAG	NP_001289279.1:n.-23-62205_-23-62204insGAACAAG
XR_927014.1:n.182-482_182-481insCTTGTTC
NM_001302348.2:c.83-62205_83-62204insGAACAAG MANE Select	NP_001289277.1:n.83-62205_83-62204insGAACAAG
NM_001302349.2:c.83-62205_83-62204insGAACAAG	NP_001289278.1:n.83-62205_83-62204insGAACAAG
NM_001302350.2:c.-23-62205_-23-62204insGAACAAG	NP_001289279.1:n.-23-62205_-23-62204insGAACAAG