Canonical Allele Identifier: CA524898501

Gene: COL11A1

Linked Data

• dbSNP Id: rs1265934248
• gnomAD v2: 1-103444360-TCTGC-T
• gnomAD v3: 1-102978804-TCTGC-T
• gnomAD v4: 1-102978804-TCTGC-T
• MyVariant Identifiers: chr1:g.103444361_103444364del (hg19) ; chr1:g.102978805_102978808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978808_102978811del , CM000663.2:g.102978808_102978811del	GRCh38
NC_000001.10:g.103444364_103444367del , CM000663.1:g.103444364_103444367del	GRCh37
NC_000001.9:g.103216952_103216955del	NCBI36
NG_008033.1:g.134689_134692del
NG_008033.2:g.134689_134692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2709+52_2710-53del MANE Select	ENSP00000359114.3:n.2709+52_2710-53del
ENST00000353414.8:c.2592+52_2593-53del	ENSP00000302551.6:n.2592+52_2593-53del
ENST00000358392.6:c.2745+52_2746-53del	ENSP00000351163.2:n.2745+52_2746-53del
ENST00000370096.7:c.2709+52_2710-53del	ENSP00000359114.3:n.2709+52_2710-53del
ENST00000512756.5:c.2361+52_2362-53del	ENSP00000426533.1:n.2361+52_2362-53del
ENST00000635193.1:c.2043+52_2044-53del
NM_001190709.1:c.2592+52_2593-53del	NP_001177638.1:n.2592+52_2593-53del
NM_001854.3:c.2709+52_2710-53del	NP_001845.3:n.2709+52_2710-53del
NM_080629.2:c.2745+52_2746-53del	NP_542196.2:n.2745+52_2746-53del
NM_080630.3:c.2361+52_2362-53del	NP_542197.3:n.2361+52_2362-53del
XM_011540719.1:c.2709+52_2710-53del	XP_011539021.1:n.2709+52_2710-53del
XM_011540720.1:c.942+52_943-53del	XP_011539022.1:n.942+52_943-53del
XM_011540721.1:c.297+52_298-53del	XP_011539023.1:n.297+52_298-53del
XR_946545.1:n.3123+52_3124-53del
NR_134980.1:n.3043+52_3044-53del
XM_017000334.1:c.2862+52_2863-53del	XP_016855823.1:n.2862+52_2863-53del
XM_017000335.1:c.2856+52_2857-53del	XP_016855824.1:n.2856+52_2857-53del
XM_017000336.1:c.2862+52_2863-53del	XP_016855825.1:n.2862+52_2863-53del
XM_017000337.1:c.1260+52_1261-53del	XP_016855826.1:n.1260+52_1261-53del
NM_001854.4:c.2709+52_2710-53del MANE Select	NP_001845.3:n.2709+52_2710-53del
NM_080630.4:c.2361+52_2362-53del	NP_542197.3:n.2361+52_2362-53del
NR_134980.2:n.3069+52_3070-53del
NM_001190709.2:c.2592+52_2593-53del	NP_001177638.1:n.2592+52_2593-53del
NM_080629.3:c.2745+52_2746-53del	NP_542196.2:n.2745+52_2746-53del