Canonical Allele Identifier: CA1619905646
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33192335_33192336delinsGC , CM000668.2:g.33192335_33192336delinsGC GRCh38
NC_000006.11:g.33160112_33160113delinsGC , CM000668.1:g.33160112_33160113delinsGC GRCh37
NC_000006.10:g.33268090_33268091delinsGC NCBI36
NG_011589.1:g.5133_5134delinsGC
NG_023374.1:g.13320_13321delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.-96_-95delinsGC MANE Select ENSP00000339915.2:n.-96_-95delinsGC
ENST00000341947.6:c.-96_-95delinsGC ENSP00000339915.2:n.-96_-95delinsGC
ENST00000361917.5:c.-96_-95delinsGC ENSP00000355123.1:n.-96_-95delinsGC
ENST00000374708.8:c.-96_-95delinsGC ENSP00000363840.4:n.-96_-95delinsGC
ENST00000395194.1:c.-96_-95delinsGC ENSP00000378620.1:n.-96_-95delinsGC
ENST00000457788.5:c.-96_-95delinsGC ENSP00000405520.1:n.-96_-95delinsGC
NM_001163771.1:c.-96_-95delinsGC NP_001157243.1:n.-96_-95delinsGC
NM_080679.2:c.-96_-95delinsGC NP_542410.2:n.-96_-95delinsGC
NM_080680.2:c.-96_-95delinsGC NP_542411.2:n.-96_-95delinsGC
NM_080681.2:c.-96_-95delinsGC NP_542412.2:n.-96_-95delinsGC
XM_011514298.1:c.-765+689_-765+690delinsGC XP_011512600.1:n.-765+689_-765+690delinsGC
XM_017010250.1:c.-66-30_-66-29delinsGC XP_016865739.1:n.-66-30_-66-29delinsGC
NM_001163771.2:c.-96_-95delinsGC NP_001157243.1:n.-96_-95delinsGC
NM_080680.3:c.-96_-95delinsGC MANE Select NP_542411.2:n.-96_-95delinsGC
NM_080681.3:c.-96_-95delinsGC NP_542412.2:n.-96_-95delinsGC
NM_080679.3:c.-96_-95delinsGC NP_542410.2:n.-96_-95delinsGC