Canonical Allele Identifier: CA824029745
Gene: COL11A2 HGNC NCBI

Linked Data

dbSNP Id: rs1212025326

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164832_33164841del , CM000668.2:g.33164832_33164841del GRCh38
NC_000006.11:g.33132609_33132618del , CM000668.1:g.33132609_33132618del GRCh37
NC_000006.10:g.33240587_33240596del NCBI36
NG_011589.1:g.32635_32644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.669+18_669+27del
ENST00000341947.7:c.4863+18_4863+27del MANE Select ENSP00000339915.2:n.4863+18_4863+27del
ENST00000341947.6:c.4863+18_4863+27del ENSP00000339915.2:n.4863+18_4863+27del
ENST00000361917.5:c.4542+18_4542+27del ENSP00000355123.1:n.4542+18_4542+27del
ENST00000374708.8:c.4605+18_4605+27del ENSP00000363840.4:n.4605+18_4605+27del
ENST00000477772.1:n.653+18_653+27del
NM_080679.2:c.4542+18_4542+27del NP_542410.2:n.4542+18_4542+27del
NM_080680.2:c.4863+18_4863+27del NP_542411.2:n.4863+18_4863+27del
NM_080681.2:c.4605+18_4605+27del NP_542412.2:n.4605+18_4605+27del
XM_011514298.1:c.4017+18_4017+27del XP_011512600.1:n.4017+18_4017+27del
XM_011514299.1:c.4149+18_4149+27del XP_011512601.1:n.4149+18_4149+27del
XM_011514300.1:c.3969+18_3969+27del XP_011512602.1:n.3969+18_3969+27del
XM_011514301.1:c.3906+18_3906+27del XP_011512603.1:n.3906+18_3906+27del
XM_011514302.1:c.3750+18_3750+27del XP_011512604.1:n.3750+18_3750+27del
XM_011514299.2:c.4149+18_4149+27del XP_011512601.1:n.4149+18_4149+27del
XM_011514300.2:c.3969+18_3969+27del XP_011512602.1:n.3969+18_3969+27del
XM_011514302.2:c.3750+18_3750+27del XP_011512604.1:n.3750+18_3750+27del
XM_017010250.1:c.4863+18_4863+27del XP_016865739.1:n.4863+18_4863+27del
XM_017010251.2:c.3681+18_3681+27del XP_016865740.1:n.3681+18_3681+27del
NM_080680.3:c.4863+18_4863+27del MANE Select NP_542411.2:n.4863+18_4863+27del
NM_080681.3:c.4605+18_4605+27del NP_542412.2:n.4605+18_4605+27del
NM_080679.3:c.4542+18_4542+27del NP_542410.2:n.4542+18_4542+27del