Canonical Allele Identifier: CA1996410841

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1861296494
• gnomAD v4: 11-103166186-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103166189_103166190del , CM000673.2:g.103166189_103166190del	GRCh38
NC_000011.9:g.103036918_103036919del , CM000673.1:g.103036918_103036919del	GRCh37
NC_000011.8:g.102542128_102542129del	NCBI36
NG_016423.1:g.61759_61760del
NG_016423.2:g.61759_61760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4762+141_4762+142del MANE Plus Clinical	ENSP00000497174.1:n.4762+141_4762+142del
ENST00000375735.7:c.4762+141_4762+142del MANE Select	ENSP00000364887.2:n.4762+141_4762+142del
ENST00000649323.1:c.*2307+141_*2307+142del	ENSP00000497581.1:n.*2307+141_*2307+142del
ENST00000650373.1:c.4762+141_4762+142del	ENSP00000497174.1:n.4762+141_4762+142del
ENST00000334267.11:c.2205+31770_2205+31771del	ENSP00000334021.7:n.2205+31770_2205+31771del
ENST00000375735.6:c.4762+141_4762+142del	ENSP00000364887.2:n.4762+141_4762+142del
ENST00000398093.7:c.4762+141_4762+142del	ENSP00000381167.3:n.4762+141_4762+142del
NM_001080463.1:c.4762+141_4762+142del	NP_001073932.1:n.4762+141_4762+142del
NM_001377.2:c.4762+141_4762+142del	NP_001368.2:n.4762+141_4762+142del
XM_006718903.2:c.4762+141_4762+142del	XP_006718966.1:n.4762+141_4762+142del
XM_017018291.1:c.4762+141_4762+142del	XP_016873780.1:n.4762+141_4762+142del
XM_017018292.1:c.4144+141_4144+142del	XP_016873781.1:n.4144+141_4144+142del
XM_017018293.1:c.4762+141_4762+142del	XP_016873782.1:n.4762+141_4762+142del
NM_001377.3:c.4762+141_4762+142del MANE Select	NP_001368.2:n.4762+141_4762+142del
NM_001080463.2:c.4762+141_4762+142del MANE Plus Clinical	NP_001073932.1:n.4762+141_4762+142del