Canonical Allele Identifier: CA1185271841
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978570_102978571delinsTA , CM000663.2:g.102978570_102978571delinsTA GRCh38
NC_000001.10:g.103444126_103444127delinsTA , CM000663.1:g.103444126_103444127delinsTA GRCh37
NC_000001.9:g.103216714_103216715delinsTA NCBI36
NG_008033.1:g.134926_134927delinsTA
NG_008033.2:g.134926_134927delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2754+137_2754+138delinsTA MANE Select ENSP00000359114.3:n.2754+137_2754+138delinsTA
ENST00000353414.8:c.2637+137_2637+138delinsTA ENSP00000302551.6:n.2637+137_2637+138delinsTA
ENST00000358392.6:c.2790+137_2790+138delinsTA ENSP00000351163.2:n.2790+137_2790+138delinsTA
ENST00000370096.7:c.2754+137_2754+138delinsTA ENSP00000359114.3:n.2754+137_2754+138delinsTA
ENST00000512756.5:c.2406+137_2406+138delinsTA ENSP00000426533.1:n.2406+137_2406+138delinsTA
ENST00000635193.1:c.2088+137_2088+138delinsTA
NM_001190709.1:c.2637+137_2637+138delinsTA NP_001177638.1:n.2637+137_2637+138delinsTA
NM_001854.3:c.2754+137_2754+138delinsTA NP_001845.3:n.2754+137_2754+138delinsTA
NM_080629.2:c.2790+137_2790+138delinsTA NP_542196.2:n.2790+137_2790+138delinsTA
NM_080630.3:c.2406+137_2406+138delinsTA NP_542197.3:n.2406+137_2406+138delinsTA
XM_011540719.1:c.2754+137_2754+138delinsTA XP_011539021.1:n.2754+137_2754+138delinsTA
XM_011540720.1:c.987+137_987+138delinsTA XP_011539022.1:n.987+137_987+138delinsTA
XM_011540721.1:c.342+137_342+138delinsTA XP_011539023.1:n.342+137_342+138delinsTA
XR_946545.1:n.3168+137_3168+138delinsTA
NR_134980.1:n.3088+137_3088+138delinsTA
XM_017000334.1:c.2907+137_2907+138delinsTA XP_016855823.1:n.2907+137_2907+138delinsTA
XM_017000335.1:c.2901+137_2901+138delinsTA XP_016855824.1:n.2901+137_2901+138delinsTA
XM_017000336.1:c.2907+137_2907+138delinsTA XP_016855825.1:n.2907+137_2907+138delinsTA
XM_017000337.1:c.1305+137_1305+138delinsTA XP_016855826.1:n.1305+137_1305+138delinsTA
NM_001854.4:c.2754+137_2754+138delinsTA MANE Select NP_001845.3:n.2754+137_2754+138delinsTA
NM_080630.4:c.2406+137_2406+138delinsTA NP_542197.3:n.2406+137_2406+138delinsTA
NR_134980.2:n.3114+137_3114+138delinsTA
NM_001190709.2:c.2637+137_2637+138delinsTA NP_001177638.1:n.2637+137_2637+138delinsTA
NM_080629.3:c.2790+137_2790+138delinsTA NP_542196.2:n.2790+137_2790+138delinsTA