Canonical Allele Identifier: CA2615744774

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103173272-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173273del , CM000673.2:g.103173273del	GRCh38
NC_000011.9:g.103044002del , CM000673.1:g.103044002del	GRCh37
NC_000011.8:g.102549212del	NCBI36
NG_016423.1:g.68843del
NG_016423.2:g.68843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5526del MANE Plus Clinical	ENSP00000497174.1:p.Ser1842ArgfsTer5
ENST00000375735.7:c.5526del MANE Select	ENSP00000364887.2:p.Ser1842ArgfsTer5
ENST00000649323.1:c.*3071del	ENSP00000497581.1:n.*3071del
ENST00000650373.1:c.5526del	ENSP00000497174.1:p.Ser1842ArgfsTer5
ENST00000334267.11:c.2205+38854del	ENSP00000334021.7:n.2205+38854del
ENST00000375735.6:c.5526del	ENSP00000364887.2:p.Ser1842ArgfsTer5
ENST00000398093.7:c.5526del	ENSP00000381167.3:p.Ser1842ArgfsTer5
NM_001080463.1:c.5526del	NP_001073932.1:p.Ser1842ArgfsTer5
NM_001377.2:c.5526del	NP_001368.2:p.Ser1842ArgfsTer5
XM_006718903.2:c.5526del	XP_006718966.1:p.Ser1842ArgfsTer5
XM_017018291.1:c.5526del	XP_016873780.1:p.Ser1842ArgfsTer5
XM_017018292.1:c.4908del	XP_016873781.1:p.Ser1636ArgfsTer5
XM_017018293.1:c.5526del	XP_016873782.1:p.Ser1842ArgfsTer5
NM_001377.3:c.5526del MANE Select	NP_001368.2:p.Ser1842ArgfsTer5
NM_001080463.2:c.5526del MANE Plus Clinical	NP_001073932.1:p.Ser1842ArgfsTer5