Canonical Allele Identifier: CA974563

Gene: COL11A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998313_102998314dup , CM000663.2:g.102998313_102998314dup	GRCh38
NC_000001.10:g.103463869_103463870dup , CM000663.1:g.103463869_103463870dup	GRCh37
NC_000001.9:g.103236457_103236458dup	NCBI36
NG_008033.1:g.115184_115185dup
NG_008033.2:g.115184_115185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2193_2194dup MANE Select	ENSP00000359114.3:p.Pro732LeufsTer?
ENST00000353414.8:c.2076_2077dup	ENSP00000302551.6:p.Pro693LeufsTer?
ENST00000358392.6:c.2229_2230dup	ENSP00000351163.2:p.Pro744LeufsTer?
ENST00000370096.7:c.2193_2194dup	ENSP00000359114.3:p.Pro732LeufsTer?
ENST00000512756.5:c.1845_1846dup	ENSP00000426533.1:p.Pro616LeufsTer?
ENST00000635193.1:c.1511_1512dup
NM_001190709.1:c.2076_2077dup	NP_001177638.1:p.Pro693LeufsTer?
NM_001854.3:c.2193_2194dup	NP_001845.3:p.Pro732LeufsTer?
NM_080629.2:c.2229_2230dup	NP_542196.2:p.Pro744LeufsTer?
NM_080630.3:c.1845_1846dup	NP_542197.3:p.Pro616LeufsTer?
XM_011540719.1:c.2193_2194dup	XP_011539021.1:p.Pro732LeufsTer?
XM_011540720.1:c.426_427dup	XP_011539022.1:p.Pro143LeufsTer?
XM_011540721.1:c.-236_-235dup	XP_011539023.1:n.-236_-235dup
XR_946545.1:n.2591_2592dup
NR_134980.1:n.2511_2512dup
XM_017000334.1:c.2346_2347dup	XP_016855823.1:p.Pro783LeufsTer?
XM_017000335.1:c.2340_2341dup	XP_016855824.1:p.Pro781LeufsTer?
XM_017000336.1:c.2346_2347dup	XP_016855825.1:p.Pro783LeufsTer?
XM_017000337.1:c.744_745dup	XP_016855826.1:p.Pro249LeufsTer?
NM_001854.4:c.2193_2194dup MANE Select	NP_001845.3:p.Pro732LeufsTer?
NM_080630.4:c.1845_1846dup	NP_542197.3:p.Pro616LeufsTer?
NR_134980.2:n.2537_2538dup
NM_001190709.2:c.2076_2077dup	NP_001177638.1:p.Pro693LeufsTer?
NM_080629.3:c.2229_2230dup	NP_542196.2:p.Pro744LeufsTer?