Canonical Allele Identifier: CA1619902994
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33185652_33185653delinsTG , CM000668.2:g.33185652_33185653delinsTG GRCh38
NC_000006.11:g.33153429_33153430delinsTG , CM000668.1:g.33153429_33153430delinsTG GRCh37
NC_000006.10:g.33261407_33261408delinsTG NCBI36
NG_011589.1:g.11816_11817delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682718.1:n.693+48_693+49delinsCA
ENST00000341947.7:c.876+48_876+49delinsCA MANE Select ENSP00000339915.2:n.876+48_876+49delinsCA
ENST00000341947.6:c.876+48_876+49delinsCA ENSP00000339915.2:n.876+48_876+49delinsCA
ENST00000361917.5:c.798+974_798+975delinsCA ENSP00000355123.1:n.798+974_798+975delinsCA
ENST00000374708.8:c.799-599_799-598delinsCA ENSP00000363840.4:n.799-599_799-598delinsCA
ENST00000457788.5:c.876+48_876+49delinsCA ENSP00000405520.1:n.876+48_876+49delinsCA
NM_080679.2:c.798+974_798+975delinsCA NP_542410.2:n.798+974_798+975delinsCA
NM_080680.2:c.876+48_876+49delinsCA NP_542411.2:n.876+48_876+49delinsCA
NM_080681.2:c.799-599_799-598delinsCA NP_542412.2:n.799-599_799-598delinsCA
XM_011514298.1:c.30+48_30+49delinsCA XP_011512600.1:n.30+48_30+49delinsCA
XM_011514299.1:c.-208_-207delinsCA XP_011512601.1:n.-208_-207delinsCA
XM_011514300.1:c.-208_-207delinsCA XP_011512602.1:n.-208_-207delinsCA
XM_011514301.1:c.-208_-207delinsCA XP_011512603.1:n.-208_-207delinsCA
XM_011514299.2:c.-208_-207delinsCA XP_011512601.1:n.-208_-207delinsCA
XM_011514300.2:c.-208_-207delinsCA XP_011512602.1:n.-208_-207delinsCA
XM_017010250.1:c.876+48_876+49delinsCA XP_016865739.1:n.876+48_876+49delinsCA
NM_080680.3:c.876+48_876+49delinsCA MANE Select NP_542411.2:n.876+48_876+49delinsCA
NM_080681.3:c.799-599_799-598delinsCA NP_542412.2:n.799-599_799-598delinsCA
NM_080679.3:c.798+974_798+975delinsCA NP_542410.2:n.798+974_798+975delinsCA