Canonical Allele Identifier: CA1185271945

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978810_102978811delinsTG , CM000663.2:g.102978810_102978811delinsTG	GRCh38
NC_000001.10:g.103444366_103444367delinsTG , CM000663.1:g.103444366_103444367delinsTG	GRCh37
NC_000001.9:g.103216954_103216955delinsTG	NCBI36
NG_008033.1:g.134686_134687delinsCA
NG_008033.2:g.134686_134687delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2709+49_2709+50delinsCA MANE Select	ENSP00000359114.3:n.2709+49_2709+50delinsCA
ENST00000353414.8:c.2592+49_2592+50delinsCA	ENSP00000302551.6:n.2592+49_2592+50delinsCA
ENST00000358392.6:c.2745+49_2745+50delinsCA	ENSP00000351163.2:n.2745+49_2745+50delinsCA
ENST00000370096.7:c.2709+49_2709+50delinsCA	ENSP00000359114.3:n.2709+49_2709+50delinsCA
ENST00000512756.5:c.2361+49_2361+50delinsCA	ENSP00000426533.1:n.2361+49_2361+50delinsCA
ENST00000635193.1:c.2043+49_2043+50delinsCA
NM_001190709.1:c.2592+49_2592+50delinsCA	NP_001177638.1:n.2592+49_2592+50delinsCA
NM_001854.3:c.2709+49_2709+50delinsCA	NP_001845.3:n.2709+49_2709+50delinsCA
NM_080629.2:c.2745+49_2745+50delinsCA	NP_542196.2:n.2745+49_2745+50delinsCA
NM_080630.3:c.2361+49_2361+50delinsCA	NP_542197.3:n.2361+49_2361+50delinsCA
XM_011540719.1:c.2709+49_2709+50delinsCA	XP_011539021.1:n.2709+49_2709+50delinsCA
XM_011540720.1:c.942+49_942+50delinsCA	XP_011539022.1:n.942+49_942+50delinsCA
XM_011540721.1:c.297+49_297+50delinsCA	XP_011539023.1:n.297+49_297+50delinsCA
XR_946545.1:n.3123+49_3123+50delinsCA
NR_134980.1:n.3043+49_3043+50delinsCA
XM_017000334.1:c.2862+49_2862+50delinsCA	XP_016855823.1:n.2862+49_2862+50delinsCA
XM_017000335.1:c.2856+49_2856+50delinsCA	XP_016855824.1:n.2856+49_2856+50delinsCA
XM_017000336.1:c.2862+49_2862+50delinsCA	XP_016855825.1:n.2862+49_2862+50delinsCA
XM_017000337.1:c.1260+49_1260+50delinsCA	XP_016855826.1:n.1260+49_1260+50delinsCA
NM_001854.4:c.2709+49_2709+50delinsCA MANE Select	NP_001845.3:n.2709+49_2709+50delinsCA
NM_080630.4:c.2361+49_2361+50delinsCA	NP_542197.3:n.2361+49_2361+50delinsCA
NR_134980.2:n.3069+49_3069+50delinsCA
NM_001190709.2:c.2592+49_2592+50delinsCA	NP_001177638.1:n.2592+49_2592+50delinsCA
NM_080629.3:c.2745+49_2745+50delinsCA	NP_542196.2:n.2745+49_2745+50delinsCA