Canonical Allele Identifier: CA601670296

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1472104791
• gnomAD v2: 11-103044064-AT-A
• gnomAD v4: 11-103173335-AT-A
• MyVariant Identifiers: chr11:g.103044065del (hg19) ; chr11:g.103173336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173339del , CM000673.2:g.103173339del	GRCh38
NC_000011.9:g.103044068del , CM000673.1:g.103044068del	GRCh37
NC_000011.8:g.102549278del	NCBI36
NG_016423.1:g.68909del
NG_016423.2:g.68909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5558+34del MANE Plus Clinical	ENSP00000497174.1:n.5558+34del
ENST00000375735.7:c.5558+34del MANE Select	ENSP00000364887.2:n.5558+34del
ENST00000649323.1:c.*3103+34del	ENSP00000497581.1:n.*3103+34del
ENST00000650373.1:c.5558+34del	ENSP00000497174.1:n.5558+34del
ENST00000334267.11:c.2205+38920del	ENSP00000334021.7:n.2205+38920del
ENST00000375735.6:c.5558+34del	ENSP00000364887.2:n.5558+34del
ENST00000398093.7:c.5558+34del	ENSP00000381167.3:n.5558+34del
NM_001080463.1:c.5558+34del	NP_001073932.1:n.5558+34del
NM_001377.2:c.5558+34del	NP_001368.2:n.5558+34del
XM_006718903.2:c.5558+34del	XP_006718966.1:n.5558+34del
XM_017018291.1:c.5558+34del	XP_016873780.1:n.5558+34del
XM_017018292.1:c.4940+34del	XP_016873781.1:n.4940+34del
XM_017018293.1:c.5558+34del	XP_016873782.1:n.5558+34del
NM_001377.3:c.5558+34del MANE Select	NP_001368.2:n.5558+34del
NM_001080463.2:c.5558+34del MANE Plus Clinical	NP_001073932.1:n.5558+34del