Canonical Allele Identifier: CA941655251

Gene: DYNC2H1

Linked Data

• gnomAD v3: 11-103125366-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 11-103125366-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103125385_103125386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.103125385_103125386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.102996114_102996115insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.102996114_102996115insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.102501324_102501325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_016423.1:g.20955_20956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_016423.2:g.20955_20956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Plus Clinical	ENSP00000497174.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000375735.7:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000364887.2:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000648198.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000497329.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000649323.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000497581.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000650373.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000497174.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000334267.11:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000334021.7:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000375735.6:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000364887.2:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000398093.7:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000381167.3:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001080463.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001073932.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001377.2:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001368.2:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006718903.2:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006718966.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017018291.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873780.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017018292.1:c.1239+90_1239+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873781.1:n.1239+90_1239+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017018293.1:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873782.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001377.3:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001368.2:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001080463.2:c.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Plus Clinical	NP_001073932.1:n.1857+90_1857+91insTTTTTTTTTTTTTTTTTTTTTTTTTT...