Canonical Allele Identifier: CA645536832

Gene: COL11A1

Linked Data

• COSMIC: COSM4517012 ; COSM4517013

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979103_102979104delinsTT , CM000663.2:g.102979103_102979104delinsTT	GRCh38
NC_000001.10:g.103444659_103444660delinsTT , CM000663.1:g.103444659_103444660delinsTT	GRCh37
NC_000001.9:g.103217247_103217248delinsTT	NCBI36
NG_008033.1:g.134393_134394delinsAA
NG_008033.2:g.134393_134394delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611_2612delinsAA MANE Select	ENSP00000359114.3:p.Gly871Lys
ENST00000353414.8:c.2494_2495delinsAA	ENSP00000302551.6:p.Gly832Lys
ENST00000358392.6:c.2647_2648delinsAA	ENSP00000351163.2:p.Gly883Lys
ENST00000370096.7:c.2611_2612delinsAA	ENSP00000359114.3:p.Gly871Lys
ENST00000512756.5:c.2263_2264delinsAA	ENSP00000426533.1:p.Gly755Lys
ENST00000635193.1:c.1945_1946delinsAA
NM_001190709.1:c.2494_2495delinsAA	NP_001177638.1:p.Gly832Lys
NM_001854.3:c.2611_2612delinsAA	NP_001845.3:p.Gly871Lys
NM_080629.2:c.2647_2648delinsAA	NP_542196.2:p.Gly883Lys
NM_080630.3:c.2263_2264delinsAA	NP_542197.3:p.Gly755Lys
XM_011540719.1:c.2611_2612delinsAA	XP_011539021.1:p.Gly871Lys
XM_011540720.1:c.844_845delinsAA	XP_011539022.1:p.Gly282Lys
XM_011540721.1:c.199_200delinsAA	XP_011539023.1:p.Gly67Lys
XR_946545.1:n.3025_3026delinsAA
NR_134980.1:n.2945_2946delinsAA
XM_017000334.1:c.2764_2765delinsAA	XP_016855823.1:p.Gly922Lys
XM_017000335.1:c.2758_2759delinsAA	XP_016855824.1:p.Gly920Lys
XM_017000336.1:c.2764_2765delinsAA	XP_016855825.1:p.Gly922Lys
XM_017000337.1:c.1162_1163delinsAA	XP_016855826.1:p.Gly388Lys
NM_001854.4:c.2611_2612delinsAA MANE Select	NP_001845.3:p.Gly871Lys
NM_080630.4:c.2263_2264delinsAA	NP_542197.3:p.Gly755Lys
NR_134980.2:n.2971_2972delinsAA
NM_001190709.2:c.2494_2495delinsAA	NP_001177638.1:p.Gly832Lys
NM_080629.3:c.2647_2648delinsAA	NP_542196.2:p.Gly883Lys