Canonical Allele Identifier: CA1185292144
Community Standard Title: NM_001854.4(COL11A1):c.990+41_990+42delinsTA
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025479_103025480delinsTA , CM000663.2:g.103025479_103025480delinsTA GRCh38
NC_000001.10:g.103491035_103491036delinsTA , CM000663.1:g.103491035_103491036delinsTA GRCh37
NC_000001.9:g.103263623_103263624delinsTA NCBI36
NG_008033.1:g.88017_88018delinsTA
NG_008033.2:g.88017_88018delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.990+41_990+42delinsTA MANE Select NP_001845.3:n.990+41_990+42delinsTA
ENST00000370096.9:c.990+41_990+42delinsTA MANE Select ENSP00000359114.3:n.990+41_990+42delinsTA
NM_001190709.1:c.873+41_873+42delinsTA NP_001177638.1:n.873+41_873+42delinsTA
NM_001190709.2:c.873+41_873+42delinsTA NP_001177638.1:n.873+41_873+42delinsTA
NM_001854.3:c.990+41_990+42delinsTA NP_001845.3:n.990+41_990+42delinsTA
NM_080629.2:c.1026+41_1026+42delinsTA NP_542196.2:n.1026+41_1026+42delinsTA
NM_080629.3:c.1026+41_1026+42delinsTA NP_542196.2:n.1026+41_1026+42delinsTA
NM_080630.3:c.897+736_897+737delinsTA NP_542197.3:n.897+736_897+737delinsTA
NM_080630.4:c.897+736_897+737delinsTA NP_542197.3:n.897+736_897+737delinsTA
NR_134980.1:n.1308+41_1308+42delinsTA
NR_134980.2:n.1334+41_1334+42delinsTA
ENST00000353414.8:c.873+41_873+42delinsTA ENSP00000302551.6:n.873+41_873+42delinsTA
ENST00000358392.6:c.1026+41_1026+42delinsTA ENSP00000351163.2:n.1026+41_1026+42delinsTA
ENST00000370096.7:c.990+41_990+42delinsTA ENSP00000359114.3:n.990+41_990+42delinsTA
ENST00000427239.5:c.1026+41_1026+42delinsTA ENSP00000408640.1:n.1026+41_1026+42delinsTA
ENST00000461720.6:c.1143+41_1143+42delinsTA ENSP00000494909.1:n.1143+41_1143+42delinsTA
ENST00000512756.5:c.897+736_897+737delinsTA ENSP00000426533.1:n.897+736_897+737delinsTA
ENST00000635193.1:c.308+41_308+42delinsTA
ENST00000644186.1:c.990+41_990+42delinsTA ENSP00000493821.1:n.990+41_990+42delinsTA
ENST00000645458.1:c.990+41_990+42delinsTA ENSP00000494179.1:n.990+41_990+42delinsTA
ENST00000647280.1:c.990+41_990+42delinsTA ENSP00000494583.1:n.990+41_990+42delinsTA
XM_011540719.1:c.990+41_990+42delinsTA XP_011539021.1:n.990+41_990+42delinsTA
XM_011540721.1:c.-1439+41_-1439+42delinsTA XP_011539023.1:n.-1439+41_-1439+42delinsTA
XM_017000334.1:c.1143+41_1143+42delinsTA XP_016855823.1:n.1143+41_1143+42delinsTA
XM_017000335.1:c.1137+41_1137+42delinsTA XP_016855824.1:n.1137+41_1137+42delinsTA
XM_017000336.1:c.1143+41_1143+42delinsTA XP_016855825.1:n.1143+41_1143+42delinsTA
XR_946545.1:n.1388+41_1388+42delinsTA