Canonical Allele Identifier: CA2615744773

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103173270-GAGCAGAAAATTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173274_103173287del , CM000673.2:g.103173274_103173287del	GRCh38
NC_000011.9:g.103044003_103044016del , CM000673.1:g.103044003_103044016del	GRCh37
NC_000011.8:g.102549213_102549226del	NCBI36
NG_016423.1:g.68844_68857del
NG_016423.2:g.68844_68857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5527_5540del MANE Plus Clinical	ENSP00000497174.1:p.Arg1843TyrfsTer6
ENST00000375735.7:c.5527_5540del MANE Select	ENSP00000364887.2:p.Arg1843TyrfsTer6
ENST00000649323.1:c.*3072_*3085del	ENSP00000497581.1:n.*3072_*3085del
ENST00000650373.1:c.5527_5540del	ENSP00000497174.1:p.Arg1843TyrfsTer6
ENST00000334267.11:c.2205+38855_2205+38868del	ENSP00000334021.7:n.2205+38855_2205+38868del
ENST00000375735.6:c.5527_5540del	ENSP00000364887.2:p.Arg1843TyrfsTer6
ENST00000398093.7:c.5527_5540del	ENSP00000381167.3:p.Arg1843TyrfsTer6
NM_001080463.1:c.5527_5540del	NP_001073932.1:p.Arg1843TyrfsTer6
NM_001377.2:c.5527_5540del	NP_001368.2:p.Arg1843TyrfsTer6
XM_006718903.2:c.5527_5540del	XP_006718966.1:p.Arg1843TyrfsTer6
XM_017018291.1:c.5527_5540del	XP_016873780.1:p.Arg1843TyrfsTer6
XM_017018292.1:c.4909_4922del	XP_016873781.1:p.Arg1637TyrfsTer6
XM_017018293.1:c.5527_5540del	XP_016873782.1:p.Arg1843TyrfsTer6
NM_001377.3:c.5527_5540del MANE Select	NP_001368.2:p.Arg1843TyrfsTer6
NM_001080463.2:c.5527_5540del MANE Plus Clinical	NP_001073932.1:p.Arg1843TyrfsTer6