Canonical Allele Identifier: CA16042286
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372792
ClinVar RCV Id: RCV000413570 RCV001174947 RCV001542539
dbSNP Id: rs1057517989
gnomAD v4: 1-103008517-CT-C
MyVariant Identifiers: chr1:g.103474074del (hg19) chr1:g.103008518del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103008518del , CM000663.2:g.103008518del GRCh38
NC_000001.10:g.103474074del , CM000663.1:g.103474074del GRCh37
NC_000001.9:g.103246662del NCBI36
NG_008033.1:g.104979del
NG_008033.2:g.104979del

Transcript Alleles

HGVS Amino-acid change
ENST00000370096.9:c.1630-2del MANE Select ENSP00000359114.3:n.1630-2del
ENST00000461720.6:c.1783-2del ENSP00000494909.1:n.1783-2del
ENST00000644186.1:c.1630-2del ENSP00000493821.1:n.1630-2del
ENST00000645458.1:c.1630-2del ENSP00000494179.1:n.1630-2del
ENST00000647280.1:c.1630-2del ENSP00000494583.1:n.1630-2del
ENST00000353414.8:c.1513-2del ENSP00000302551.6:n.1513-2del
ENST00000358392.6:c.1666-2del ENSP00000351163.2:n.1666-2del
ENST00000370096.7:c.1630-2del ENSP00000359114.3:n.1630-2del
ENST00000427239.5:c.1666-2del ENSP00000408640.1:n.1666-2del
ENST00000512756.5:c.1282-2del ENSP00000426533.1:n.1282-2del
ENST00000635193.1:c.948-2del
NM_001190709.1:c.1513-2del NP_001177638.1:n.1513-2del
NM_001854.3:c.1630-2del NP_001845.3:n.1630-2del
NM_080629.2:c.1666-2del NP_542196.2:n.1666-2del
NM_080630.3:c.1282-2del NP_542197.3:n.1282-2del
XM_011540719.1:c.1630-2del XP_011539021.1:n.1630-2del
XM_011540720.1:c.-85+158del XP_011539022.1:n.-85+158del
XM_011540721.1:c.-799-2del XP_011539023.1:n.-799-2del
XR_946545.1:n.2028-2del
NR_134980.1:n.1948-2del
XM_017000334.1:c.1783-2del XP_016855823.1:n.1783-2del
XM_017000335.1:c.1777-2del XP_016855824.1:n.1777-2del
XM_017000336.1:c.1783-2del XP_016855825.1:n.1783-2del
XM_017000337.1:c.181-2del XP_016855826.1:n.181-2del
NM_001854.4:c.1630-2del MANE Select NP_001845.3:n.1630-2del
NM_080630.4:c.1282-2del NP_542197.3:n.1282-2del
NR_134980.2:n.1974-2del
NM_001190709.2:c.1513-2del NP_001177638.1:n.1513-2del
NM_080629.3:c.1666-2del NP_542196.2:n.1666-2del
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