Canonical Allele Identifier: CA2580060742

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2010990
• ClinVar RCV Id: RCV002829157

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979122_102979123delinsGG , CM000663.2:g.102979122_102979123delinsGG	GRCh38
NC_000001.10:g.103444678_103444679delinsGG , CM000663.1:g.103444678_103444679delinsGG	GRCh37
NC_000001.9:g.103217266_103217267delinsGG	NCBI36
NG_008033.1:g.134374_134375delinsCC
NG_008033.2:g.134374_134375delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-19_2611-18delinsCC MANE Select	ENSP00000359114.3:n.2611-19_2611-18delinsCC
ENST00000353414.8:c.2494-19_2494-18delinsCC	ENSP00000302551.6:n.2494-19_2494-18delinsCC
ENST00000358392.6:c.2647-19_2647-18delinsCC	ENSP00000351163.2:n.2647-19_2647-18delinsCC
ENST00000370096.7:c.2611-19_2611-18delinsCC	ENSP00000359114.3:n.2611-19_2611-18delinsCC
ENST00000512756.5:c.2263-19_2263-18delinsCC	ENSP00000426533.1:n.2263-19_2263-18delinsCC
ENST00000635193.1:c.1945-19_1945-18delinsCC
NM_001190709.1:c.2494-19_2494-18delinsCC	NP_001177638.1:n.2494-19_2494-18delinsCC
NM_001854.3:c.2611-19_2611-18delinsCC	NP_001845.3:n.2611-19_2611-18delinsCC
NM_080629.2:c.2647-19_2647-18delinsCC	NP_542196.2:n.2647-19_2647-18delinsCC
NM_080630.3:c.2263-19_2263-18delinsCC	NP_542197.3:n.2263-19_2263-18delinsCC
XM_011540719.1:c.2611-19_2611-18delinsCC	XP_011539021.1:n.2611-19_2611-18delinsCC
XM_011540720.1:c.844-19_844-18delinsCC	XP_011539022.1:n.844-19_844-18delinsCC
XM_011540721.1:c.199-19_199-18delinsCC	XP_011539023.1:n.199-19_199-18delinsCC
XR_946545.1:n.3025-19_3025-18delinsCC
NR_134980.1:n.2945-19_2945-18delinsCC
XM_017000334.1:c.2764-19_2764-18delinsCC	XP_016855823.1:n.2764-19_2764-18delinsCC
XM_017000335.1:c.2758-19_2758-18delinsCC	XP_016855824.1:n.2758-19_2758-18delinsCC
XM_017000336.1:c.2764-19_2764-18delinsCC	XP_016855825.1:n.2764-19_2764-18delinsCC
XM_017000337.1:c.1162-19_1162-18delinsCC	XP_016855826.1:n.1162-19_1162-18delinsCC
NM_001854.4:c.2611-19_2611-18delinsCC MANE Select	NP_001845.3:n.2611-19_2611-18delinsCC
NM_080630.4:c.2263-19_2263-18delinsCC	NP_542197.3:n.2263-19_2263-18delinsCC
NR_134980.2:n.2971-19_2971-18delinsCC
NM_001190709.2:c.2494-19_2494-18delinsCC	NP_001177638.1:n.2494-19_2494-18delinsCC
NM_080629.3:c.2647-19_2647-18delinsCC	NP_542196.2:n.2647-19_2647-18delinsCC