Canonical Allele Identifier: CA7920412

Gene: NDE1 MIR484

Linked Data

• ClinVar Variation Id: 318017
• ClinVar RCV Id: RCV000290580
• dbSNP Id: rs757090627
• ExAC: 16:15737203 C / CG
• gnomAD v2: 16-15737203-C-CG
• gnomAD v3: 16-15643346-C-CG
• gnomAD v4: 16-15643346-C-CG
• COSMIC: COSN23014899
• MyVariant Identifiers: chr16:g.15737209dupG (hg19) ; chr16:g.15737204_15737205insG (hg19) ; chr16:g.15737203_15737204insG (hg19) ; chr16:g.15643352dupG (hg38) ; chr16:g.15643346_15643347insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15643352dup , CM000678.2:g.15643352dup	GRCh38
NC_000016.9:g.15737209dup , CM000678.1:g.15737209dup	GRCh37
NC_000016.8:g.15644710dup	NCBI36
NG_021210.1:g.5086dup
NG_021407.1:g.4820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396355.5:c.-741dup (NDE1)	ENSP00000379643.1:n.-741dup
NM_001143979.1:c.-741dup (NDE1)	NP_001137451.1:n.-741dup
NR_030159.1:n.59dup (MIR484)
XM_006720897.2:c.-523dup (NDE1)	XP_006720960.1:n.-523dup
XM_006720898.2:c.-523dup (NDE1)	XP_006720961.1:n.-523dup
XM_006720899.2:c.-523dup (NDE1)	XP_006720962.1:n.-523dup
XM_011522549.1:c.-523dup (NDE1)	XP_011520851.1:n.-523dup
XM_011522550.1:c.-523dup (NDE1)	XP_011520852.1:n.-523dup
XM_011522551.1:c.-523dup (NDE1)	XP_011520853.1:n.-523dup
XM_011522552.1:c.-523dup (NDE1)	XP_011520854.1:n.-523dup
XM_011522553.1:c.-741dup (NDE1)	XP_011520855.1:n.-741dup
XM_011522554.1:c.-523dup (NDE1)	XP_011520856.1:n.-523dup
XM_006720897.4:c.-523dup (NDE1)	XP_006720960.1:n.-523dup
XM_011522553.2:c.-741dup (NDE1)	XP_011520855.1:n.-741dup