Canonical Allele Identifier: CA601669963

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1430052931
• gnomAD v2: 11-102991807-T-TAAAAGTGAAA
• MyVariant Identifiers: chr11:g.102991807_102991808insAAAAGTGAAA (hg19) ; chr11:g.103121078_103121079insAAAAGTGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103121078_103121079insAAAAGTGAAA , CM000673.2:g.103121078_103121079insAAAAGTGAAA	GRCh38
NC_000011.9:g.102991807_102991808insAAAAGTGAAA , CM000673.1:g.102991807_102991808insAAAAGTGAAA	GRCh37
NC_000011.8:g.102497017_102497018insAAAAGTGAAA	NCBI36
NG_016423.1:g.16648_16649insAAAAGTGAAA
NG_016423.2:g.16648_16649insAAAAGTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1360+42_1360+43insAAAAGTGAAA MANE Plus Clinical	ENSP00000497174.1:n.1360+42_1360+43insAAAAGTGAAA
ENST00000375735.7:c.1360+42_1360+43insAAAAGTGAAA MANE Select	ENSP00000364887.2:n.1360+42_1360+43insAAAAGTGAAA
ENST00000648198.1:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000497329.1:n.1360+42_1360+43insAAAAGTGAAA
ENST00000649323.1:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000497581.1:n.1360+42_1360+43insAAAAGTGAAA
ENST00000650373.1:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000497174.1:n.1360+42_1360+43insAAAAGTGAAA
ENST00000334267.11:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000334021.7:n.1360+42_1360+43insAAAAGTGAAA
ENST00000375735.6:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000364887.2:n.1360+42_1360+43insAAAAGTGAAA
ENST00000398093.7:c.1360+42_1360+43insAAAAGTGAAA	ENSP00000381167.3:n.1360+42_1360+43insAAAAGTGAAA
NM_001080463.1:c.1360+42_1360+43insAAAAGTGAAA	NP_001073932.1:n.1360+42_1360+43insAAAAGTGAAA
NM_001377.2:c.1360+42_1360+43insAAAAGTGAAA	NP_001368.2:n.1360+42_1360+43insAAAAGTGAAA
XM_006718903.2:c.1360+42_1360+43insAAAAGTGAAA	XP_006718966.1:n.1360+42_1360+43insAAAAGTGAAA
XM_017018291.1:c.1360+42_1360+43insAAAAGTGAAA	XP_016873780.1:n.1360+42_1360+43insAAAAGTGAAA
XM_017018292.1:c.742+42_742+43insAAAAGTGAAA	XP_016873781.1:n.742+42_742+43insAAAAGTGAAA
XM_017018293.1:c.1360+42_1360+43insAAAAGTGAAA	XP_016873782.1:n.1360+42_1360+43insAAAAGTGAAA
NM_001377.3:c.1360+42_1360+43insAAAAGTGAAA MANE Select	NP_001368.2:n.1360+42_1360+43insAAAAGTGAAA
NM_001080463.2:c.1360+42_1360+43insAAAAGTGAAA MANE Plus Clinical	NP_001073932.1:n.1360+42_1360+43insAAAAGTGAAA