Canonical Allele Identifier: CA2646804912

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978744-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978745del , CM000663.2:g.102978745del	GRCh38
NC_000001.10:g.103444301del , CM000663.1:g.103444301del	GRCh37
NC_000001.9:g.103216889del	NCBI36
NG_008033.1:g.134752del
NG_008033.2:g.134752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2717del MANE Select	ENSP00000359114.3:p.Ser906Ter
ENST00000353414.8:c.2600del	ENSP00000302551.6:p.Ser867Ter
ENST00000358392.6:c.2753del	ENSP00000351163.2:p.Ser918Ter
ENST00000370096.7:c.2717del	ENSP00000359114.3:p.Ser906Ter
ENST00000512756.5:c.2369del	ENSP00000426533.1:p.Ser790Ter
ENST00000635193.1:c.2051del
NM_001190709.1:c.2600del	NP_001177638.1:p.Ser867Ter
NM_001854.3:c.2717del	NP_001845.3:p.Ser906Ter
NM_080629.2:c.2753del	NP_542196.2:p.Ser918Ter
NM_080630.3:c.2369del	NP_542197.3:p.Ser790Ter
XM_011540719.1:c.2717del	XP_011539021.1:p.Ser906Ter
XM_011540720.1:c.950del	XP_011539022.1:p.Ser317Ter
XM_011540721.1:c.305del	XP_011539023.1:p.Ser102Ter
XR_946545.1:n.3131del
NR_134980.1:n.3051del
XM_017000334.1:c.2870del	XP_016855823.1:p.Ser957Ter
XM_017000335.1:c.2864del	XP_016855824.1:p.Ser955Ter
XM_017000336.1:c.2870del	XP_016855825.1:p.Ser957Ter
XM_017000337.1:c.1268del	XP_016855826.1:p.Ser423Ter
NM_001854.4:c.2717del MANE Select	NP_001845.3:p.Ser906Ter
NM_080630.4:c.2369del	NP_542197.3:p.Ser790Ter
NR_134980.2:n.3077del
NM_001190709.2:c.2600del	NP_001177638.1:p.Ser867Ter
NM_080629.3:c.2753del	NP_542196.2:p.Ser918Ter