Canonical Allele Identifier: CA153815812

Gene: UMAD1

Linked Data

• dbSNP Id: rs989387738
• gnomAD v3: 7-7739713-G-GTT
• gnomAD v4: 7-7739713-G-GTT
• MyVariant Identifiers: chr7:g.7779344_7779345insTT (hg19) ; chr7:g.7739713_7739714insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7739714_7739715insTT , CM000669.2:g.7739714_7739715insTT	GRCh38
NC_000007.13:g.7779345_7779346insTT , CM000669.1:g.7779345_7779346insTT	GRCh37
NC_000007.12:g.7745870_7745871insTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682710.1:c.83-61956_83-61955insTT MANE Select	ENSP00000507605.1:n.83-61956_83-61955insTT
ENST00000418534.3:n.601-730_601-729insAA
ENST00000463725.5:n.323-61956_323-61955insTT
ENST00000482067.3:n.174-61956_174-61955insTT
ENST00000599208.1:n.436-730_436-729insAA
ENST00000628552.1:n.239-730_239-729insAA
ENST00000636849.1:c.83-61956_83-61955insTT	ENSP00000489648.1:n.83-61956_83-61955insTT
ENST00000638342.1:c.83-61956_83-61955insTT	ENSP00000491286.1:n.83-61956_83-61955insTT
ENST00000639110.1:c.83-61956_83-61955insTT	ENSP00000491319.1:n.83-61956_83-61955insTT
ENST00000639343.1:c.263+823_263+824insTT	ENSP00000491077.1:n.263+823_263+824insTT
NM_001302348.1:c.83-61956_83-61955insTT	NP_001289277.1:n.83-61956_83-61955insTT
NM_001302349.1:c.83-61956_83-61955insTT	NP_001289278.1:n.83-61956_83-61955insTT
NM_001302350.1:c.-23-61956_-23-61955insTT	NP_001289279.1:n.-23-61956_-23-61955insTT
XR_927014.1:n.182-730_182-729insAA
NM_001302348.2:c.83-61956_83-61955insTT MANE Select	NP_001289277.1:n.83-61956_83-61955insTT
NM_001302349.2:c.83-61956_83-61955insTT	NP_001289278.1:n.83-61956_83-61955insTT
NM_001302350.2:c.-23-61956_-23-61955insTT	NP_001289279.1:n.-23-61956_-23-61955insTT