Canonical Allele Identifier: CA601235165

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1481321603
• gnomAD v2: 11-102996208-AATT-A
• gnomAD v3: 11-103125479-AATT-A
• gnomAD v4: 11-103125479-AATT-A
• MyVariant Identifiers: chr11:g.102996209_102996211del (hg19) ; chr11:g.103125480_103125482del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125486_103125488del , CM000673.2:g.103125486_103125488del	GRCh38
NC_000011.9:g.102996215_102996217del , CM000673.1:g.102996215_102996217del	GRCh37
NC_000011.8:g.102501425_102501427del	NCBI36
NG_016423.1:g.21056_21058del
NG_016423.2:g.21056_21058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1857+191_1857+193del MANE Plus Clinical	ENSP00000497174.1:n.1857+191_1857+193del
ENST00000375735.7:c.1857+191_1857+193del MANE Select	ENSP00000364887.2:n.1857+191_1857+193del
ENST00000648198.1:c.1857+191_1857+193del	ENSP00000497329.1:n.1857+191_1857+193del
ENST00000649323.1:c.1857+191_1857+193del	ENSP00000497581.1:n.1857+191_1857+193del
ENST00000650373.1:c.1857+191_1857+193del	ENSP00000497174.1:n.1857+191_1857+193del
ENST00000334267.11:c.1857+191_1857+193del	ENSP00000334021.7:n.1857+191_1857+193del
ENST00000375735.6:c.1857+191_1857+193del	ENSP00000364887.2:n.1857+191_1857+193del
ENST00000398093.7:c.1857+191_1857+193del	ENSP00000381167.3:n.1857+191_1857+193del
NM_001080463.1:c.1857+191_1857+193del	NP_001073932.1:n.1857+191_1857+193del
NM_001377.2:c.1857+191_1857+193del	NP_001368.2:n.1857+191_1857+193del
XM_006718903.2:c.1857+191_1857+193del	XP_006718966.1:n.1857+191_1857+193del
XM_017018291.1:c.1857+191_1857+193del	XP_016873780.1:n.1857+191_1857+193del
XM_017018292.1:c.1239+191_1239+193del	XP_016873781.1:n.1239+191_1239+193del
XM_017018293.1:c.1857+191_1857+193del	XP_016873782.1:n.1857+191_1857+193del
NM_001377.3:c.1857+191_1857+193del MANE Select	NP_001368.2:n.1857+191_1857+193del
NM_001080463.2:c.1857+191_1857+193del MANE Plus Clinical	NP_001073932.1:n.1857+191_1857+193del