Canonical Allele Identifier: CA2646804910

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978725-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978729_102978731del , CM000663.2:g.102978729_102978731del	GRCh38
NC_000001.10:g.103444285_103444287del , CM000663.1:g.103444285_103444287del	GRCh37
NC_000001.9:g.103216873_103216875del	NCBI36
NG_008033.1:g.134769_134771del
NG_008033.2:g.134769_134771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2734_2736del MANE Select	ENSP00000359114.3:p.Pro912del
ENST00000353414.8:c.2617_2619del	ENSP00000302551.6:p.Pro873del
ENST00000358392.6:c.2770_2772del	ENSP00000351163.2:p.Pro924del
ENST00000370096.7:c.2734_2736del	ENSP00000359114.3:p.Pro912del
ENST00000512756.5:c.2386_2388del	ENSP00000426533.1:p.Pro796del
ENST00000635193.1:c.2068_2070del
NM_001190709.1:c.2617_2619del	NP_001177638.1:p.Pro873del
NM_001854.3:c.2734_2736del	NP_001845.3:p.Pro912del
NM_080629.2:c.2770_2772del	NP_542196.2:p.Pro924del
NM_080630.3:c.2386_2388del	NP_542197.3:p.Pro796del
XM_011540719.1:c.2734_2736del	XP_011539021.1:p.Pro912del
XM_011540720.1:c.967_969del	XP_011539022.1:p.Pro323del
XM_011540721.1:c.322_324del	XP_011539023.1:p.Pro108del
XR_946545.1:n.3148_3150del
NR_134980.1:n.3068_3070del
XM_017000334.1:c.2887_2889del	XP_016855823.1:p.Pro963del
XM_017000335.1:c.2881_2883del	XP_016855824.1:p.Pro961del
XM_017000336.1:c.2887_2889del	XP_016855825.1:p.Pro963del
XM_017000337.1:c.1285_1287del	XP_016855826.1:p.Pro429del
NM_001854.4:c.2734_2736del MANE Select	NP_001845.3:p.Pro912del
NM_080630.4:c.2386_2388del	NP_542197.3:p.Pro796del
NR_134980.2:n.3094_3096del
NM_001190709.2:c.2617_2619del	NP_001177638.1:p.Pro873del
NM_080629.3:c.2770_2772del	NP_542196.2:p.Pro924del