Canonical Allele Identifier: CA1185271948
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978812_102978813delinsGA , CM000663.2:g.102978812_102978813delinsGA GRCh38
NC_000001.10:g.103444368_103444369delinsGA , CM000663.1:g.103444368_103444369delinsGA GRCh37
NC_000001.9:g.103216956_103216957delinsGA NCBI36
NG_008033.1:g.134684_134685delinsTC
NG_008033.2:g.134684_134685delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2709+47_2709+48delinsTC MANE Select ENSP00000359114.3:n.2709+47_2709+48delinsTC
ENST00000353414.8:c.2592+47_2592+48delinsTC ENSP00000302551.6:n.2592+47_2592+48delinsTC
ENST00000358392.6:c.2745+47_2745+48delinsTC ENSP00000351163.2:n.2745+47_2745+48delinsTC
ENST00000370096.7:c.2709+47_2709+48delinsTC ENSP00000359114.3:n.2709+47_2709+48delinsTC
ENST00000512756.5:c.2361+47_2361+48delinsTC ENSP00000426533.1:n.2361+47_2361+48delinsTC
ENST00000635193.1:c.2043+47_2043+48delinsTC
NM_001190709.1:c.2592+47_2592+48delinsTC NP_001177638.1:n.2592+47_2592+48delinsTC
NM_001854.3:c.2709+47_2709+48delinsTC NP_001845.3:n.2709+47_2709+48delinsTC
NM_080629.2:c.2745+47_2745+48delinsTC NP_542196.2:n.2745+47_2745+48delinsTC
NM_080630.3:c.2361+47_2361+48delinsTC NP_542197.3:n.2361+47_2361+48delinsTC
XM_011540719.1:c.2709+47_2709+48delinsTC XP_011539021.1:n.2709+47_2709+48delinsTC
XM_011540720.1:c.942+47_942+48delinsTC XP_011539022.1:n.942+47_942+48delinsTC
XM_011540721.1:c.297+47_297+48delinsTC XP_011539023.1:n.297+47_297+48delinsTC
XR_946545.1:n.3123+47_3123+48delinsTC
NR_134980.1:n.3043+47_3043+48delinsTC
XM_017000334.1:c.2862+47_2862+48delinsTC XP_016855823.1:n.2862+47_2862+48delinsTC
XM_017000335.1:c.2856+47_2856+48delinsTC XP_016855824.1:n.2856+47_2856+48delinsTC
XM_017000336.1:c.2862+47_2862+48delinsTC XP_016855825.1:n.2862+47_2862+48delinsTC
XM_017000337.1:c.1260+47_1260+48delinsTC XP_016855826.1:n.1260+47_1260+48delinsTC
NM_001854.4:c.2709+47_2709+48delinsTC MANE Select NP_001845.3:n.2709+47_2709+48delinsTC
NM_080630.4:c.2361+47_2361+48delinsTC NP_542197.3:n.2361+47_2361+48delinsTC
NR_134980.2:n.3069+47_3069+48delinsTC
NM_001190709.2:c.2592+47_2592+48delinsTC NP_001177638.1:n.2592+47_2592+48delinsTC
NM_080629.3:c.2745+47_2745+48delinsTC NP_542196.2:n.2745+47_2745+48delinsTC