Canonical Allele Identifier: CA1185271825
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1662720686

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978529_102978532del , CM000663.2:g.102978529_102978532del GRCh38
NC_000001.10:g.103444085_103444088del , CM000663.1:g.103444085_103444088del GRCh37
NC_000001.9:g.103216673_103216676del NCBI36
NG_008033.1:g.134968_134971del
NG_008033.2:g.134968_134971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2754+179_2754+182del MANE Select ENSP00000359114.3:n.2754+179_2754+182del
ENST00000353414.8:c.2637+179_2637+182del ENSP00000302551.6:n.2637+179_2637+182del
ENST00000358392.6:c.2790+179_2790+182del ENSP00000351163.2:n.2790+179_2790+182del
ENST00000370096.7:c.2754+179_2754+182del ENSP00000359114.3:n.2754+179_2754+182del
ENST00000512756.5:c.2406+179_2406+182del ENSP00000426533.1:n.2406+179_2406+182del
ENST00000635193.1:c.2088+179_2088+182del
NM_001190709.1:c.2637+179_2637+182del NP_001177638.1:n.2637+179_2637+182del
NM_001854.3:c.2754+179_2754+182del NP_001845.3:n.2754+179_2754+182del
NM_080629.2:c.2790+179_2790+182del NP_542196.2:n.2790+179_2790+182del
NM_080630.3:c.2406+179_2406+182del NP_542197.3:n.2406+179_2406+182del
XM_011540719.1:c.2754+179_2754+182del XP_011539021.1:n.2754+179_2754+182del
XM_011540720.1:c.987+179_987+182del XP_011539022.1:n.987+179_987+182del
XM_011540721.1:c.342+179_342+182del XP_011539023.1:n.342+179_342+182del
XR_946545.1:n.3168+179_3168+182del
NR_134980.1:n.3088+179_3088+182del
XM_017000334.1:c.2907+179_2907+182del XP_016855823.1:n.2907+179_2907+182del
XM_017000335.1:c.2901+179_2901+182del XP_016855824.1:n.2901+179_2901+182del
XM_017000336.1:c.2907+179_2907+182del XP_016855825.1:n.2907+179_2907+182del
XM_017000337.1:c.1305+179_1305+182del XP_016855826.1:n.1305+179_1305+182del
NM_001854.4:c.2754+179_2754+182del MANE Select NP_001845.3:n.2754+179_2754+182del
NM_080630.4:c.2406+179_2406+182del NP_542197.3:n.2406+179_2406+182del
NR_134980.2:n.3114+179_3114+182del
NM_001190709.2:c.2637+179_2637+182del NP_001177638.1:n.2637+179_2637+182del
NM_080629.3:c.2790+179_2790+182del NP_542196.2:n.2790+179_2790+182del