Canonical Allele Identifier: CA137054953
Gene: COL11A2 HGNC NCBI

Linked Data

dbSNP Id: rs34501377

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192337del , CM000668.2:g.33192337del GRCh38
NC_000006.11:g.33160114del , CM000668.1:g.33160114del GRCh37
NC_000006.10:g.33268092del NCBI36
NG_011589.1:g.5133del
NG_023374.1:g.13320del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.-96del MANE Select ENSP00000339915.2:n.-96del
ENST00000341947.6:c.-96del ENSP00000339915.2:n.-96del
ENST00000361917.5:c.-96del ENSP00000355123.1:n.-96del
ENST00000374708.8:c.-96del ENSP00000363840.4:n.-96del
ENST00000395194.1:c.-96del ENSP00000378620.1:n.-96del
ENST00000457788.5:c.-96del ENSP00000405520.1:n.-96del
NM_001163771.1:c.-96del NP_001157243.1:n.-96del
NM_080679.2:c.-96del NP_542410.2:n.-96del
NM_080680.2:c.-96del NP_542411.2:n.-96del
NM_080681.2:c.-96del NP_542412.2:n.-96del
XM_011514298.1:c.-765+689del XP_011512600.1:n.-765+689del
XM_017010250.1:c.-66-30del XP_016865739.1:n.-66-30del
NM_001163771.2:c.-96del NP_001157243.1:n.-96del
NM_080680.3:c.-96del MANE Select NP_542411.2:n.-96del
NM_080681.3:c.-96del NP_542412.2:n.-96del
NM_080679.3:c.-96del NP_542410.2:n.-96del