Canonical Allele Identifier: CA271881870

Gene: VPS13C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.61972820_61972821insT , CM000677.2:g.61972820_61972821insT	GRCh38
NC_000015.9:g.62265019_62265020insT , CM000677.1:g.62265019_62265020insT	GRCh37
NC_000015.8:g.60052311_60052312insT	NCBI36
NG_027782.1:g.92645_92646insA

Transcript Alleles

HGVS	Amino-acid Change
NM_020821.3:c.2618-57_2618-56insA MANE Select	NP_065872.1:n.2618-57_2618-56insA
ENST00000644861.2:c.2618-57_2618-56insA MANE Select	ENSP00000493560.2:n.2618-57_2618-56insA
NM_001018088.2:c.2618-57_2618-56insA	NP_001018098.1:n.2618-57_2618-56insA
NM_001018088.3:c.2618-57_2618-56insA	NP_001018098.1:n.2618-57_2618-56insA
NM_017684.4:c.2489-57_2489-56insA	NP_060154.3:n.2489-57_2489-56insA
NM_017684.5:c.2489-57_2489-56insA	NP_060154.3:n.2489-57_2489-56insA
NM_018080.3:c.2489-57_2489-56insA	NP_060550.2:n.2489-57_2489-56insA
NM_018080.4:c.2489-57_2489-56insA	NP_060550.2:n.2489-57_2489-56insA
NM_020821.2:c.2618-57_2618-56insA	NP_065872.1:n.2618-57_2618-56insA
ENST00000249837.7:c.2489-57_2489-56insA	ENSP00000249837.3:n.2489-57_2489-56insA
ENST00000261517.9:c.2618-57_2618-56insA	ENSP00000261517.5:n.2618-57_2618-56insA
ENST00000395896.8:c.2618-57_2618-56insA	ENSP00000379233.4:n.2618-57_2618-56insA
ENST00000395898.3:c.2489-57_2489-56insA	ENSP00000379235.3:n.2489-57_2489-56insA
ENST00000645819.1:c.2618-57_2618-56insA	ENSP00000496179.1:n.2618-57_2618-56insA
XM_011521713.1:c.2618-57_2618-56insA	XP_011520015.1:n.2618-57_2618-56insA
XM_011521713.3:c.2618-57_2618-56insA	XP_011520015.1:n.2618-57_2618-56insA
XM_011521714.1:c.2618-57_2618-56insA	XP_011520016.1:n.2618-57_2618-56insA
XM_011521714.2:c.2618-57_2618-56insA	XP_011520016.1:n.2618-57_2618-56insA
XR_001751332.1:n.2670-57_2670-56insA
XR_931854.1:n.2670-57_2670-56insA
XR_931855.1:n.2670-57_2670-56insA
XR_931855.2:n.2670-57_2670-56insA