Canonical Allele Identifier: CA10637575

Gene: ALG9

Linked Data

• ClinVar Variation Id: 302389
• ClinVar RCV Id: RCV000331541
• dbSNP Id: rs886047670
• MyVariant Identifiers: chr11:g.111654672_111654677del (hg19) ; chr11:g.111783948_111783953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111783948_111783953del , CM000673.2:g.111783948_111783953del	GRCh38
NC_000011.9:g.111654672_111654677del , CM000673.1:g.111654672_111654677del	GRCh37
NC_000011.8:g.111159882_111159887del	NCBI36
NG_009210.1:g.92628_92633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.*2444_*2449del MANE Select	ENSP00000482437.1:n.*2444_*2449del
ENST00000532425.6:c.2727_2732del
NM_001077690.1:c.*2444_*2449del	NP_001071158.1:n.*2444_*2449del
NM_001077691.1:c.*2444_*2449del	NP_001071159.1:n.*2444_*2449del
NM_001077692.1:c.*2444_*2449del	NP_001071160.1:n.*2444_*2449del
NM_024740.2:c.*2444_*2449del MANE Select	NP_079016.2:n.*2444_*2449del
NM_001352409.1:c.*2444_*2449del	NP_001339338.1:n.*2444_*2449del
NM_001352410.1:c.*2444_*2449del	NP_001339339.1:n.*2444_*2449del
NM_001352411.1:c.*2444_*2449del	NP_001339340.1:n.*2444_*2449del
NM_001352412.1:c.*2444_*2449del	NP_001339341.1:n.*2444_*2449del
NM_001352413.1:c.*2444_*2449del	NP_001339342.1:n.*2444_*2449del
NM_001352414.1:c.*2444_*2449del	NP_001339343.1:n.*2444_*2449del
NM_001352415.1:c.*2104_*2109del	NP_001339344.1:n.*2104_*2109del
NM_001352416.1:c.*2104_*2109del	NP_001339345.1:n.*2104_*2109del
NM_001352417.1:c.*2104_*2109del	NP_001339346.1:n.*2104_*2109del
NM_001352418.1:c.*2444_*2449del	NP_001339347.1:n.*2444_*2449del
NM_001352419.1:c.*2104_*2109del	NP_001339348.1:n.*2104_*2109del
NM_001352420.1:c.*2573_*2578del	NP_001339349.1:n.*2573_*2578del
NM_001352421.1:c.*2567_*2572del	NP_001339350.1:n.*2567_*2572del
NM_001352422.1:c.*2444_*2449del	NP_001339351.1:n.*2444_*2449del
NM_001352423.1:c.*2444_*2449del	NP_001339352.1:n.*2444_*2449del
NR_147984.1:n.4899_4904del
XM_005277723.5:c.*2104_*2109del	XP_005277780.1:n.*2104_*2109del
XM_017018314.2:c.*2444_*2449del	XP_016873803.1:n.*2444_*2449del
XR_001747967.2:n.2246+1836_2246+1841del
XR_001747968.2:n.2225+1836_2225+1841del
XR_001747969.2:n.2123+1836_2123+1841del
XR_001747971.1:n.2554+1836_2554+1841del
XR_001747972.1:n.2558+1836_2558+1841del
XR_001747973.1:n.2261+1836_2261+1841del
XR_001747974.1:n.2374+1836_2374+1841del
XR_001747975.1:n.2533+1836_2533+1841del
XR_001747976.1:n.2537+1836_2537+1841del
XR_001747977.1:n.1710+1836_1710+1841del
NM_001077691.2:c.*2444_*2449del	NP_001071159.1:n.*2444_*2449del
NM_001077692.2:c.*2444_*2449del	NP_001071160.1:n.*2444_*2449del
NM_001352411.2:c.*2444_*2449del	NP_001339340.1:n.*2444_*2449del
NM_001352412.2:c.*2444_*2449del	NP_001339341.1:n.*2444_*2449del
NM_001352414.2:c.*2444_*2449del	NP_001339343.1:n.*2444_*2449del
NM_001352420.2:c.*2573_*2578del	NP_001339349.1:n.*2573_*2578del
NM_001352421.2:c.*2567_*2572del	NP_001339350.1:n.*2567_*2572del
NM_001352422.2:c.*2444_*2449del	NP_001339351.1:n.*2444_*2449del
NM_001352423.2:c.*2444_*2449del	NP_001339352.1:n.*2444_*2449del
NR_147984.2:n.4919_4924del