Canonical Allele Identifier: CA2739270851

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 2861660
• ClinVar RCV Id: RCV003747861

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103165911_103165913del , CM000673.2:g.103165911_103165913del	GRCh38
NC_000011.9:g.103036640_103036642del , CM000673.1:g.103036640_103036642del	GRCh37
NC_000011.8:g.102541850_102541852del	NCBI36
NG_016423.1:g.61481_61483del
NG_016423.2:g.61481_61483del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650373.2:c.4625_4627del MANE Plus Clinical	ENSP00000497174.1:p.Ala1542del
ENST00000375735.7:c.4625_4627del MANE Select	ENSP00000364887.2:p.Ala1542del
ENST00000649323.1:c.*2170_*2172del	ENSP00000497581.1:n.*2170_*2172del
ENST00000650373.1:c.4625_4627del	ENSP00000497174.1:p.Ala1542del
ENST00000334267.11:c.2205+31492_2205+31494del	ENSP00000334021.7:n.2205+31492_2205+31494...
ENST00000375735.6:c.4625_4627del	ENSP00000364887.2:p.Ala1542del
ENST00000398093.7:c.4625_4627del	ENSP00000381167.3:p.Ala1542del
NM_001080463.1:c.4625_4627del	NP_001073932.1:p.Ala1542del
NM_001377.2:c.4625_4627del	NP_001368.2:p.Ala1542del
XM_006718903.2:c.4625_4627del	XP_006718966.1:p.Ala1542del
XM_017018291.1:c.4625_4627del	XP_016873780.1:p.Ala1542del
XM_017018292.1:c.4007_4009del	XP_016873781.1:p.Ala1336del
XM_017018293.1:c.4625_4627del	XP_016873782.1:p.Ala1542del
NM_001377.3:c.4625_4627del MANE Select	NP_001368.2:p.Ala1542del
NM_001080463.2:c.4625_4627del MANE Plus Clinical	NP_001073932.1:p.Ala1542del