Canonical Allele Identifier: CA645522712

Gene: COL11A1

Linked Data

• COSMIC: COSM1953890 ; COSM1953891

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914740dup , CM000663.2:g.102914740dup	GRCh38
NC_000001.10:g.103380296dup , CM000663.1:g.103380296dup	GRCh37
NC_000001.9:g.103152884dup	NCBI36
NG_008033.1:g.198760dup
NG_008033.2:g.198760dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3891dup MANE Select	ENSP00000359114.3:p.Pro1298AlafsTer4
ENST00000353414.8:c.3774dup	ENSP00000302551.6:p.Pro1259AlafsTer4
ENST00000358392.6:c.3927dup	ENSP00000351163.2:p.Pro1310AlafsTer4
ENST00000370096.7:c.3891dup	ENSP00000359114.3:p.Pro1298AlafsTer4
ENST00000512756.5:c.3543dup	ENSP00000426533.1:p.Pro1182AlafsTer4
ENST00000635193.1:c.3225dup
NM_001190709.1:c.3774dup	NP_001177638.1:p.Pro1259AlafsTer4
NM_001854.3:c.3891dup	NP_001845.3:p.Pro1298AlafsTer4
NM_080629.2:c.3927dup	NP_542196.2:p.Pro1310AlafsTer4
NM_080630.3:c.3543dup	NP_542197.3:p.Pro1182AlafsTer4
XM_011540719.1:c.3891dup	XP_011539021.1:p.Pro1298AlafsTer4
XM_011540720.1:c.2124dup	XP_011539022.1:p.Pro709AlafsTer4
XM_011540721.1:c.1479dup	XP_011539023.1:p.Pro494AlafsTer4
NR_134980.1:n.4225dup
XM_017000334.1:c.4044dup	XP_016855823.1:p.Pro1349AlafsTer4
XM_017000335.1:c.4038dup	XP_016855824.1:p.Pro1347AlafsTer4
XM_017000336.1:c.4044dup	XP_016855825.1:p.Pro1349AlafsTer4
XM_017000337.1:c.2442dup	XP_016855826.1:p.Pro815AlafsTer4
NM_001854.4:c.3891dup MANE Select	NP_001845.3:p.Pro1298AlafsTer4
NM_080630.4:c.3543dup	NP_542197.3:p.Pro1182AlafsTer4
NR_134980.2:n.4251dup
NM_001190709.2:c.3774dup	NP_001177638.1:p.Pro1259AlafsTer4
NM_080629.3:c.3927dup	NP_542196.2:p.Pro1310AlafsTer4