Canonical Allele Identifier: CA6253784

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 407162
• ClinVar RCV Id: RCV000470853 ; RCV003401467 ; RCV002272241
• dbSNP Id: rs771003300
• ExAC: 11:103044022 TC / T
• gnomAD v2: 11-103044022-TC-T
• gnomAD v3: 11-103173293-TC-T
• gnomAD v4: 11-103173293-TC-T
• MyVariant Identifiers: chr11:g.103044023del (hg19) ; chr11:g.103173294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173294del , CM000673.2:g.103173294del	GRCh38
NC_000011.9:g.103044023del , CM000673.1:g.103044023del	GRCh37
NC_000011.8:g.102549233del	NCBI36
NG_016423.1:g.68864del
NG_016423.2:g.68864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5547del MANE Plus Clinical	ENSP00000497174.1:p.Phe1849LeufsTer8
ENST00000375735.7:c.5547del MANE Select	ENSP00000364887.2:p.Phe1849LeufsTer8
ENST00000649323.1:c.*3092del	ENSP00000497581.1:n.*3092del
ENST00000650373.1:c.5547del	ENSP00000497174.1:p.Phe1849LeufsTer8
ENST00000334267.11:c.2205+38875del	ENSP00000334021.7:n.2205+38875del
ENST00000375735.6:c.5547del	ENSP00000364887.2:p.Phe1849LeufsTer8
ENST00000398093.7:c.5547del	ENSP00000381167.3:p.Phe1849LeufsTer8
NM_001080463.1:c.5547del	NP_001073932.1:p.Phe1849LeufsTer8
NM_001377.2:c.5547del	NP_001368.2:p.Phe1849LeufsTer8
XM_006718903.2:c.5547del	XP_006718966.1:p.Phe1849LeufsTer8
XM_017018291.1:c.5547del	XP_016873780.1:p.Phe1849LeufsTer8
XM_017018292.1:c.4929del	XP_016873781.1:p.Phe1643LeufsTer8
XM_017018293.1:c.5547del	XP_016873782.1:p.Phe1849LeufsTer8
NM_001377.3:c.5547del MANE Select	NP_001368.2:p.Phe1849LeufsTer8
NM_001080463.2:c.5547del MANE Plus Clinical	NP_001073932.1:p.Phe1849LeufsTer8