Canonical Allele Identifier: CA2678226371
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164383_33164386del , CM000668.2:g.33164383_33164386del GRCh38
NC_000006.11:g.33132160_33132163del , CM000668.1:g.33132160_33132163del GRCh37
NC_000006.10:g.33240138_33240141del NCBI36
NG_011589.1:g.33083_33086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.757_760del
ENST00000341947.7:c.4951_4954del MANE Select ENSP00000339915.2:p.Val1651ProfsTer13
ENST00000341947.6:c.4951_4954del ENSP00000339915.2:p.Val1651ProfsTer13
ENST00000361917.5:c.4630_4633del ENSP00000355123.1:p.Val1544ProfsTer13
ENST00000374708.8:c.4693_4696del ENSP00000363840.4:p.Val1565ProfsTer13
ENST00000477772.1:n.741_744del
NM_080679.2:c.4630_4633del NP_542410.2:p.Val1544ProfsTer13
NM_080680.2:c.4951_4954del NP_542411.2:p.Val1651ProfsTer13
NM_080681.2:c.4693_4696del NP_542412.2:p.Val1565ProfsTer13
XM_011514298.1:c.4105_4108del XP_011512600.1:p.Val1369ProfsTer13
XM_011514299.1:c.4237_4240del XP_011512601.1:p.Val1413ProfsTer13
XM_011514300.1:c.4057_4060del XP_011512602.1:p.Val1353ProfsTer13
XM_011514301.1:c.3994_3997del XP_011512603.1:p.Val1332ProfsTer13
XM_011514302.1:c.3838_3841del XP_011512604.1:p.Val1280ProfsTer13
XM_011514299.2:c.4237_4240del XP_011512601.1:p.Val1413ProfsTer13
XM_011514300.2:c.4057_4060del XP_011512602.1:p.Val1353ProfsTer13
XM_011514302.2:c.3838_3841del XP_011512604.1:p.Val1280ProfsTer13
XM_017010250.1:c.4951_4954del XP_016865739.1:p.Val1651ProfsTer13
XM_017010251.2:c.3769_3772del XP_016865740.1:p.Val1257ProfsTer13
NM_080680.3:c.4951_4954del MANE Select NP_542411.2:p.Val1651ProfsTer13
NM_080681.3:c.4693_4696del NP_542412.2:p.Val1565ProfsTer13
NM_080679.3:c.4630_4633del NP_542410.2:p.Val1544ProfsTer13