Canonical Allele Identifier: CA2646804974

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102979066-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979068del , CM000663.2:g.102979068del	GRCh38
NC_000001.10:g.103444624del , CM000663.1:g.103444624del	GRCh37
NC_000001.9:g.103217212del	NCBI36
NG_008033.1:g.134430del
NG_008033.2:g.134430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2648del MANE Select	ENSP00000359114.3:p.Gly883ValfsTer?
ENST00000353414.8:c.2531del	ENSP00000302551.6:p.Gly844ValfsTer?
ENST00000358392.6:c.2684del	ENSP00000351163.2:p.Gly895ValfsTer?
ENST00000370096.7:c.2648del	ENSP00000359114.3:p.Gly883ValfsTer?
ENST00000512756.5:c.2300del	ENSP00000426533.1:p.Gly767ValfsTer?
ENST00000635193.1:c.1982del
NM_001190709.1:c.2531del	NP_001177638.1:p.Gly844ValfsTer?
NM_001854.3:c.2648del	NP_001845.3:p.Gly883ValfsTer?
NM_080629.2:c.2684del	NP_542196.2:p.Gly895ValfsTer?
NM_080630.3:c.2300del	NP_542197.3:p.Gly767ValfsTer?
XM_011540719.1:c.2648del	XP_011539021.1:p.Gly883ValfsTer?
XM_011540720.1:c.881del	XP_011539022.1:p.Gly294ValfsTer?
XM_011540721.1:c.236del	XP_011539023.1:p.Gly79ValfsTer?
XR_946545.1:n.3062del
NR_134980.1:n.2982del
XM_017000334.1:c.2801del	XP_016855823.1:p.Gly934ValfsTer?
XM_017000335.1:c.2795del	XP_016855824.1:p.Gly932ValfsTer?
XM_017000336.1:c.2801del	XP_016855825.1:p.Gly934ValfsTer?
XM_017000337.1:c.1199del	XP_016855826.1:p.Gly400ValfsTer?
NM_001854.4:c.2648del MANE Select	NP_001845.3:p.Gly883ValfsTer?
NM_080630.4:c.2300del	NP_542197.3:p.Gly767ValfsTer?
NR_134980.2:n.3008del
NM_001190709.2:c.2531del	NP_001177638.1:p.Gly844ValfsTer?
NM_080629.3:c.2684del	NP_542196.2:p.Gly895ValfsTer?