Canonical Allele Identifier: CA2678226729
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164753_33164767del , CM000668.2:g.33164753_33164767del GRCh38
NC_000006.11:g.33132530_33132544del , CM000668.1:g.33132530_33132544del GRCh37
NC_000006.10:g.33240508_33240522del NCBI36
NG_011589.1:g.32706_32720del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.669+89_669+103del
ENST00000341947.7:c.4863+89_4863+103del MANE Select ENSP00000339915.2:n.4863+89_4863+103del
ENST00000341947.6:c.4863+89_4863+103del ENSP00000339915.2:n.4863+89_4863+103del
ENST00000361917.5:c.4542+89_4542+103del ENSP00000355123.1:n.4542+89_4542+103del
ENST00000374708.8:c.4605+89_4605+103del ENSP00000363840.4:n.4605+89_4605+103del
ENST00000477772.1:n.653+89_653+103del
NM_080679.2:c.4542+89_4542+103del NP_542410.2:n.4542+89_4542+103del
NM_080680.2:c.4863+89_4863+103del NP_542411.2:n.4863+89_4863+103del
NM_080681.2:c.4605+89_4605+103del NP_542412.2:n.4605+89_4605+103del
XM_011514298.1:c.4017+89_4017+103del XP_011512600.1:n.4017+89_4017+103del
XM_011514299.1:c.4149+89_4149+103del XP_011512601.1:n.4149+89_4149+103del
XM_011514300.1:c.3969+89_3969+103del XP_011512602.1:n.3969+89_3969+103del
XM_011514301.1:c.3906+89_3906+103del XP_011512603.1:n.3906+89_3906+103del
XM_011514302.1:c.3750+89_3750+103del XP_011512604.1:n.3750+89_3750+103del
XM_011514299.2:c.4149+89_4149+103del XP_011512601.1:n.4149+89_4149+103del
XM_011514300.2:c.3969+89_3969+103del XP_011512602.1:n.3969+89_3969+103del
XM_011514302.2:c.3750+89_3750+103del XP_011512604.1:n.3750+89_3750+103del
XM_017010250.1:c.4863+89_4863+103del XP_016865739.1:n.4863+89_4863+103del
XM_017010251.2:c.3681+89_3681+103del XP_016865740.1:n.3681+89_3681+103del
NM_080680.3:c.4863+89_4863+103del MANE Select NP_542411.2:n.4863+89_4863+103del
NM_080681.3:c.4605+89_4605+103del NP_542412.2:n.4605+89_4605+103del
NM_080679.3:c.4542+89_4542+103del NP_542410.2:n.4542+89_4542+103del