Canonical Allele Identifier: CA6252884

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 446593
• ClinVar RCV Id: RCV001291175 ; RCV003424070
• dbSNP Id: rs773897318
• ExAC: 11:102996010 ATTATTC / A
• gnomAD v2: 11-102996010-ATTATTC-A
• gnomAD v4: 11-103125281-ATTATTC-A
• MyVariant Identifiers: chr11:g.102996014_102996019del (hg19) ; chr11:g.102996011_102996016del (hg19) ; chr11:g.103125285_103125290del (hg38) ; chr11:g.103125282_103125287del (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125285_103125290del , CM000673.2:g.103125285_103125290del	GRCh38
NC_000011.9:g.102996014_102996019del , CM000673.1:g.102996014_102996019del	GRCh37
NC_000011.8:g.102501224_102501229del	NCBI36
NG_016423.1:g.20855_20860del
NG_016423.2:g.20855_20860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1847_1852del MANE Plus Clinical	ENSP00000497174.1:p.Ile616_Leu617del
ENST00000375735.7:c.1847_1852del MANE Select	ENSP00000364887.2:p.Ile616_Leu617del
ENST00000648198.1:c.1847_1852del	ENSP00000497329.1:p.Ile616_Leu617del
ENST00000649323.1:c.1847_1852del	ENSP00000497581.1:p.Ile616_Leu617del
ENST00000650373.1:c.1847_1852del	ENSP00000497174.1:p.Ile616_Leu617del
ENST00000334267.11:c.1847_1852del	ENSP00000334021.7:p.Ile616_Leu617del
ENST00000375735.6:c.1847_1852del	ENSP00000364887.2:p.Ile616_Leu617del
ENST00000398093.7:c.1847_1852del	ENSP00000381167.3:p.Ile616_Leu617del
NM_001080463.1:c.1847_1852del	NP_001073932.1:p.Ile616_Leu617del
NM_001377.2:c.1847_1852del	NP_001368.2:p.Ile616_Leu617del
XM_006718903.2:c.1847_1852del	XP_006718966.1:p.Ile616_Leu617del
XM_017018291.1:c.1847_1852del	XP_016873780.1:p.Ile616_Leu617del
XM_017018292.1:c.1229_1234del	XP_016873781.1:p.Ile410_Leu411del
XM_017018293.1:c.1847_1852del	XP_016873782.1:p.Ile616_Leu617del
NM_001377.3:c.1847_1852del MANE Select	NP_001368.2:p.Ile616_Leu617del
NM_001080463.2:c.1847_1852del MANE Plus Clinical	NP_001073932.1:p.Ile616_Leu617del