Canonical Allele Identifier: CA2690915357

Gene: NANS TRIM14

Linked Data

• gnomAD v4: 9-98077005-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98077006dup , CM000671.2:g.98077006dup	GRCh38
NC_000009.11:g.100839288dup , CM000671.1:g.100839288dup	GRCh37
NC_000009.10:g.99879109dup	NCBI36
NG_052789.1:g.25330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000210444.6:c.437dup (NANS) MANE Select	ENSP00000210444.5:p.Ala147SerfsTer?
ENST00000210444.5:c.437dup (NANS)	ENSP00000210444.5:p.Ala147SerfsTer?
ENST00000375098.7:c.*29-7319dup (TRIM14)	ENSP00000364239.3:n.*29-7319dup
ENST00000415280.1:c.-118dup (NANS)	ENSP00000404107.1:n.-118dup
ENST00000461452.1:n.2364dup (NANS)
ENST00000495319.1:n.641dup (NANS)
NM_018946.3:c.437dup (NANS)	NP_061819.2:p.Ala147SerfsTer?
XM_011518787.1:c.89dup (NANS)	XP_011517089.1:p.Ala31SerfsTer?
XM_011518788.1:c.61dup (NANS)	XP_011517090.1:p.Gln21ProfsTer?
XM_011518787.2:c.89dup (NANS)	XP_011517089.1:p.Ala31SerfsTer?
XM_011518788.2:c.61dup (NANS)	XP_011517090.1:p.Gln21ProfsTer?
XM_017014811.1:c.-118dup (NANS)	XP_016870300.1:n.-118dup
XM_017015352.2:c.*29-4840dup (TRIM14)	XP_016870841.1:n.*29-4840dup
XM_024447574.1:c.89dup (NANS)	XP_024303342.1:p.Ala31SerfsTer?
NM_018946.4:c.437dup (NANS) MANE Select	NP_061819.2:p.Ala147SerfsTer?