Canonical Allele Identifier: CA2615743811

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103165961-A-AGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103165962_103165963insACAGG , CM000673.2:g.103165962_103165963insACAGG	GRCh38
NC_000011.9:g.103036691_103036692insACAGG , CM000673.1:g.103036691_103036692insACAGG	GRCh37
NC_000011.8:g.102541901_102541902insACAGG	NCBI36
NG_016423.1:g.61532_61533insACAGG
NG_016423.2:g.61532_61533insACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4676_4677insACAGG MANE Plus Clinical	ENSP00000497174.1:p.Ser1559ArgfsTer12
ENST00000375735.7:c.4676_4677insACAGG MANE Select	ENSP00000364887.2:p.Ser1559ArgfsTer12
ENST00000649323.1:c.*2221_*2222insACAGG	ENSP00000497581.1:n.*2221_*2222insACAGG
ENST00000650373.1:c.4676_4677insACAGG	ENSP00000497174.1:p.Ser1559ArgfsTer12
ENST00000334267.11:c.2205+31543_2205+31544insACAGG	ENSP00000334021.7:n.2205+31543_2205+31544insACAGG
ENST00000375735.6:c.4676_4677insACAGG	ENSP00000364887.2:p.Ser1559ArgfsTer12
ENST00000398093.7:c.4676_4677insACAGG	ENSP00000381167.3:p.Ser1559ArgfsTer12
NM_001080463.1:c.4676_4677insACAGG	NP_001073932.1:p.Ser1559ArgfsTer12
NM_001377.2:c.4676_4677insACAGG	NP_001368.2:p.Ser1559ArgfsTer12
XM_006718903.2:c.4676_4677insACAGG	XP_006718966.1:p.Ser1559ArgfsTer12
XM_017018291.1:c.4676_4677insACAGG	XP_016873780.1:p.Ser1559ArgfsTer12
XM_017018292.1:c.4058_4059insACAGG	XP_016873781.1:p.Ser1353ArgfsTer12
XM_017018293.1:c.4676_4677insACAGG	XP_016873782.1:p.Ser1559ArgfsTer12
NM_001377.3:c.4676_4677insACAGG MANE Select	NP_001368.2:p.Ser1559ArgfsTer12
NM_001080463.2:c.4676_4677insACAGG MANE Plus Clinical	NP_001073932.1:p.Ser1559ArgfsTer12