Canonical Allele Identifier: CA10606941
Gene: COL11A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33176751_33176755delinsT , CM000668.2:g.33176751_33176755delinsT GRCh38
NC_000006.11:g.33144528_33144532delinsT , CM000668.1:g.33144528_33144532delinsT GRCh37
NC_000006.10:g.33252506_33252510delinsT NCBI36
NG_011589.1:g.20714_20718delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361917.6:c.654_658delinsA
ENST00000341947.7:c.2081_2085delinsA MANE Select ENSP00000339915.2:p.Gly694GlufsTer20
ENST00000341947.6:c.2081_2085delinsA ENSP00000339915.2:p.Gly694GlufsTer20
ENST00000361917.5:c.1760_1764delinsA ENSP00000355123.1:p.Gly587GlufsTer20
ENST00000374708.8:c.1823_1827delinsA ENSP00000363840.4:p.Gly608GlufsTer20
ENST00000477772.1:n.272+254_272+258delinsA
NM_080679.2:c.1760_1764delinsA NP_542410.2:p.Gly587GlufsTer20
NM_080680.2:c.2081_2085delinsA NP_542411.2:p.Gly694GlufsTer20
NM_080681.2:c.1823_1827delinsA NP_542412.2:p.Gly608GlufsTer20
XM_011514298.1:c.1235_1239delinsA XP_011512600.1:p.Gly412GlufsTer20
XM_011514299.1:c.1367_1371delinsA XP_011512601.1:p.Gly456GlufsTer20
XM_011514300.1:c.1187_1191delinsA XP_011512602.1:p.Gly396GlufsTer20
XM_011514301.1:c.1124_1128delinsA XP_011512603.1:p.Gly375GlufsTer20
XM_011514302.1:c.968_972delinsA XP_011512604.1:p.Gly323GlufsTer20
XM_011514299.2:c.1367_1371delinsA XP_011512601.1:p.Gly456GlufsTer20
XM_011514300.2:c.1187_1191delinsA XP_011512602.1:p.Gly396GlufsTer20
XM_011514302.2:c.968_972delinsA XP_011512604.1:p.Gly323GlufsTer20
XM_017010250.1:c.2081_2085delinsA XP_016865739.1:p.Gly694GlufsTer20
XM_017010251.2:c.899_903delinsA XP_016865740.1:p.Gly300GlufsTer20
NM_080680.3:c.2081_2085delinsA MANE Select NP_542411.2:p.Gly694GlufsTer20
NM_080681.3:c.1823_1827delinsA NP_542412.2:p.Gly608GlufsTer20
NM_080679.3:c.1760_1764delinsA NP_542410.2:p.Gly587GlufsTer20
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