Canonical Allele Identifier: CA884739240
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1020094908

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102989464_102989465insT , CM000663.2:g.102989464_102989465insT GRCh38
NC_000001.10:g.103455020_103455021insT , CM000663.1:g.103455020_103455021insT GRCh37
NC_000001.9:g.103227608_103227609insT NCBI36
NG_008033.1:g.124032_124033insA
NG_008033.2:g.124032_124033insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2394+53_2394+54insA MANE Select ENSP00000359114.3:n.2394+53_2394+54insA
ENST00000353414.8:c.2277+53_2277+54insA ENSP00000302551.6:n.2277+53_2277+54insA
ENST00000358392.6:c.2430+53_2430+54insA ENSP00000351163.2:n.2430+53_2430+54insA
ENST00000370096.7:c.2394+53_2394+54insA ENSP00000359114.3:n.2394+53_2394+54insA
ENST00000512756.5:c.2046+53_2046+54insA ENSP00000426533.1:n.2046+53_2046+54insA
ENST00000635193.1:c.1712+53_1712+54insA
NM_001190709.1:c.2277+53_2277+54insA NP_001177638.1:n.2277+53_2277+54insA
NM_001854.3:c.2394+53_2394+54insA NP_001845.3:n.2394+53_2394+54insA
NM_080629.2:c.2430+53_2430+54insA NP_542196.2:n.2430+53_2430+54insA
NM_080630.3:c.2046+53_2046+54insA NP_542197.3:n.2046+53_2046+54insA
XM_011540719.1:c.2394+53_2394+54insA XP_011539021.1:n.2394+53_2394+54insA
XM_011540720.1:c.627+53_627+54insA XP_011539022.1:n.627+53_627+54insA
XM_011540721.1:c.-35+53_-35+54insA XP_011539023.1:n.-35+53_-35+54insA
XR_946545.1:n.2792+53_2792+54insA
NR_134980.1:n.2712+53_2712+54insA
XM_017000334.1:c.2547+53_2547+54insA XP_016855823.1:n.2547+53_2547+54insA
XM_017000335.1:c.2541+53_2541+54insA XP_016855824.1:n.2541+53_2541+54insA
XM_017000336.1:c.2547+53_2547+54insA XP_016855825.1:n.2547+53_2547+54insA
XM_017000337.1:c.945+53_945+54insA XP_016855826.1:n.945+53_945+54insA
NM_001854.4:c.2394+53_2394+54insA MANE Select NP_001845.3:n.2394+53_2394+54insA
NM_080630.4:c.2046+53_2046+54insA NP_542197.3:n.2046+53_2046+54insA
NR_134980.2:n.2738+53_2738+54insA
NM_001190709.2:c.2277+53_2277+54insA NP_001177638.1:n.2277+53_2277+54insA
NM_080629.3:c.2430+53_2430+54insA NP_542196.2:n.2430+53_2430+54insA