Canonical Allele Identifier: CA1185278373
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102993838_102993843delinsCATATT , CM000663.2:g.102993838_102993843delinsCATATT GRCh38
NC_000001.10:g.103459394_103459399delinsCATATT , CM000663.1:g.103459394_103459399delinsCATATT GRCh37
NC_000001.9:g.103231982_103231987delinsCATATT NCBI36
NG_008033.1:g.119654_119659delinsAATATG
NG_008033.2:g.119654_119659delinsAATATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2340+2021_2340+2026delinsAATATG MANE Select ENSP00000359114.3:n.2340+2021_2340+2026delinsAATATG
ENST00000353414.8:c.2223+2021_2223+2026delinsAATATG ENSP00000302551.6:n.2223+2021_2223+2026delinsAATATG
ENST00000358392.6:c.2376+2021_2376+2026delinsAATATG ENSP00000351163.2:n.2376+2021_2376+2026delinsAATATG
ENST00000370096.7:c.2340+2021_2340+2026delinsAATATG ENSP00000359114.3:n.2340+2021_2340+2026delinsAATATG
ENST00000512756.5:c.1992+2021_1992+2026delinsAATATG ENSP00000426533.1:n.1992+2021_1992+2026delinsAATATG
ENST00000635193.1:c.1658+2021_1658+2026delinsAATATG
NM_001190709.1:c.2223+2021_2223+2026delinsAATATG NP_001177638.1:n.2223+2021_2223+2026delinsAATATG
NM_001854.3:c.2340+2021_2340+2026delinsAATATG NP_001845.3:n.2340+2021_2340+2026delinsAATATG
NM_080629.2:c.2376+2021_2376+2026delinsAATATG NP_542196.2:n.2376+2021_2376+2026delinsAATATG
NM_080630.3:c.1992+2021_1992+2026delinsAATATG NP_542197.3:n.1992+2021_1992+2026delinsAATATG
XM_011540719.1:c.2340+2021_2340+2026delinsAATATG XP_011539021.1:n.2340+2021_2340+2026delinsAATATG
XM_011540720.1:c.573+2021_573+2026delinsAATATG XP_011539022.1:n.573+2021_573+2026delinsAATATG
XM_011540721.1:c.-89+2021_-89+2026delinsAATATG XP_011539023.1:n.-89+2021_-89+2026delinsAATATG
XR_946545.1:n.2738+2021_2738+2026delinsAATATG
NR_134980.1:n.2658+2021_2658+2026delinsAATATG
XM_017000334.1:c.2493+2021_2493+2026delinsAATATG XP_016855823.1:n.2493+2021_2493+2026delinsAATATG
XM_017000335.1:c.2487+2021_2487+2026delinsAATATG XP_016855824.1:n.2487+2021_2487+2026delinsAATATG
XM_017000336.1:c.2493+2021_2493+2026delinsAATATG XP_016855825.1:n.2493+2021_2493+2026delinsAATATG
XM_017000337.1:c.891+2021_891+2026delinsAATATG XP_016855826.1:n.891+2021_891+2026delinsAATATG
NM_001854.4:c.2340+2021_2340+2026delinsAATATG MANE Select NP_001845.3:n.2340+2021_2340+2026delinsAATATG
NM_080630.4:c.1992+2021_1992+2026delinsAATATG NP_542197.3:n.1992+2021_1992+2026delinsAATATG
NR_134980.2:n.2684+2021_2684+2026delinsAATATG
NM_001190709.2:c.2223+2021_2223+2026delinsAATATG NP_001177638.1:n.2223+2021_2223+2026delinsAATATG
NM_080629.3:c.2376+2021_2376+2026delinsAATATG NP_542196.2:n.2376+2021_2376+2026delinsAATATG