Canonical Allele Identifier: CA1996390436

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103121147_103121148delinsTG , CM000673.2:g.103121147_103121148delinsTG	GRCh38
NC_000011.9:g.102991876_102991877delinsTG , CM000673.1:g.102991876_102991877delinsTG	GRCh37
NC_000011.8:g.102497086_102497087delinsTG	NCBI36
NG_016423.1:g.16717_16718delinsTG
NG_016423.2:g.16717_16718delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1360+111_1360+112delinsTG MANE Plus Clinical	ENSP00000497174.1:n.1360+111_1360+112delinsTG
ENST00000375735.7:c.1360+111_1360+112delinsTG MANE Select	ENSP00000364887.2:n.1360+111_1360+112delinsTG
ENST00000648198.1:c.1360+111_1360+112delinsTG	ENSP00000497329.1:n.1360+111_1360+112delinsTG
ENST00000649323.1:c.1360+111_1360+112delinsTG	ENSP00000497581.1:n.1360+111_1360+112delinsTG
ENST00000650373.1:c.1360+111_1360+112delinsTG	ENSP00000497174.1:n.1360+111_1360+112delinsTG
ENST00000334267.11:c.1360+111_1360+112delinsTG	ENSP00000334021.7:n.1360+111_1360+112delinsTG
ENST00000375735.6:c.1360+111_1360+112delinsTG	ENSP00000364887.2:n.1360+111_1360+112delinsTG
ENST00000398093.7:c.1360+111_1360+112delinsTG	ENSP00000381167.3:n.1360+111_1360+112delinsTG
NM_001080463.1:c.1360+111_1360+112delinsTG	NP_001073932.1:n.1360+111_1360+112delinsTG
NM_001377.2:c.1360+111_1360+112delinsTG	NP_001368.2:n.1360+111_1360+112delinsTG
XM_006718903.2:c.1360+111_1360+112delinsTG	XP_006718966.1:n.1360+111_1360+112delinsTG
XM_017018291.1:c.1360+111_1360+112delinsTG	XP_016873780.1:n.1360+111_1360+112delinsTG
XM_017018292.1:c.742+111_742+112delinsTG	XP_016873781.1:n.742+111_742+112delinsTG
XM_017018293.1:c.1360+111_1360+112delinsTG	XP_016873782.1:n.1360+111_1360+112delinsTG
NM_001377.3:c.1360+111_1360+112delinsTG MANE Select	NP_001368.2:n.1360+111_1360+112delinsTG
NM_001080463.2:c.1360+111_1360+112delinsTG MANE Plus Clinical	NP_001073932.1:n.1360+111_1360+112delinsTG