Canonical Allele Identifier: CA2580060760

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2088404
• ClinVar RCV Id: RCV003011623

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989578_102989587del , CM000663.2:g.102989578_102989587del	GRCh38
NC_000001.10:g.103455134_103455143del , CM000663.1:g.103455134_103455143del	GRCh37
NC_000001.9:g.103227722_103227731del	NCBI36
NG_008033.1:g.123915_123924del
NG_008033.2:g.123915_123924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2341-11_2341-2del MANE Select	ENSP00000359114.3:n.2341-11_2341-2del
ENST00000353414.8:c.2224-11_2224-2del	ENSP00000302551.6:n.2224-11_2224-2del
ENST00000358392.6:c.2377-11_2377-2del	ENSP00000351163.2:n.2377-11_2377-2del
ENST00000370096.7:c.2341-11_2341-2del	ENSP00000359114.3:n.2341-11_2341-2del
ENST00000512756.5:c.1993-11_1993-2del	ENSP00000426533.1:n.1993-11_1993-2del
ENST00000635193.1:c.1659-11_1659-2del
NM_001190709.1:c.2224-11_2224-2del	NP_001177638.1:n.2224-11_2224-2del
NM_001854.3:c.2341-11_2341-2del	NP_001845.3:n.2341-11_2341-2del
NM_080629.2:c.2377-11_2377-2del	NP_542196.2:n.2377-11_2377-2del
NM_080630.3:c.1993-11_1993-2del	NP_542197.3:n.1993-11_1993-2del
XM_011540719.1:c.2341-11_2341-2del	XP_011539021.1:n.2341-11_2341-2del
XM_011540720.1:c.574-11_574-2del	XP_011539022.1:n.574-11_574-2del
XM_011540721.1:c.-88-11_-88-2del	XP_011539023.1:n.-88-11_-88-2del
XR_946545.1:n.2739-11_2739-2del
NR_134980.1:n.2659-11_2659-2del
XM_017000334.1:c.2494-11_2494-2del	XP_016855823.1:n.2494-11_2494-2del
XM_017000335.1:c.2488-11_2488-2del	XP_016855824.1:n.2488-11_2488-2del
XM_017000336.1:c.2494-11_2494-2del	XP_016855825.1:n.2494-11_2494-2del
XM_017000337.1:c.892-11_892-2del	XP_016855826.1:n.892-11_892-2del
NM_001854.4:c.2341-11_2341-2del MANE Select	NP_001845.3:n.2341-11_2341-2del
NM_080630.4:c.1993-11_1993-2del	NP_542197.3:n.1993-11_1993-2del
NR_134980.2:n.2685-11_2685-2del
NM_001190709.2:c.2224-11_2224-2del	NP_001177638.1:n.2224-11_2224-2del
NM_080629.3:c.2377-11_2377-2del	NP_542196.2:n.2377-11_2377-2del