Canonical Allele Identifier: CA2697548896

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103245324del , CM000673.2:g.103245324del	GRCh38
NC_000011.9:g.103116053del , CM000673.1:g.103116053del	GRCh37
NC_000011.8:g.102621263del	NCBI36
NG_016423.1:g.140894del
NG_016423.2:g.140894del

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.9992del MANE Select	NP_001368.2:p.Gly3331ValfsTer2
ENST00000375735.7:c.9992del MANE Select	ENSP00000364887.2:p.Gly3331ValfsTer2
NM_001080463.2:c.10013del MANE Plus Clinical	NP_001073932.1:p.Gly3338ValfsTer2
ENST00000650373.2:c.10013del MANE Plus Clinical	ENSP00000497174.1:p.Gly3338ValfsTer2
NM_001080463.1:c.10013del	NP_001073932.1:p.Gly3338ValfsTer2
NM_001377.2:c.9992del	NP_001368.2:p.Gly3331ValfsTer2
ENST00000334267.11:c.2205+110905del	ENSP00000334021.7:n.2205+110905del
ENST00000375735.6:c.9992del	ENSP00000364887.2:p.Gly3331ValfsTer2
ENST00000398093.7:c.10013del	ENSP00000381167.3:p.Gly3338ValfsTer2
ENST00000650373.1:c.10013del	ENSP00000497174.1:p.Gly3338ValfsTer2
XM_006718903.2:c.9971del	XP_006718966.1:p.Gly3324ValfsTer2
XM_017018291.1:c.9992del	XP_016873780.1:p.Gly3331ValfsTer2
XM_017018292.1:c.9374del	XP_016873781.1:p.Gly3125ValfsTer2