Canonical Allele Identifier: CA281688
Gene: COL11A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33172580_33172606del , CM000668.2:g.33172580_33172606del GRCh38
NC_000006.11:g.33140357_33140383del , CM000668.1:g.33140357_33140383del GRCh37
NC_000006.10:g.33248335_33248361del NCBI36
NG_011589.1:g.24863_24889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.2822_2848del MANE Select ENSP00000339915.2:p.Glu941_Pro950delinsAla
ENST00000341947.6:c.2822_2848del ENSP00000339915.2:p.Glu941_Pro950delinsAla
ENST00000361917.5:c.2501_2527del ENSP00000355123.1:p.Glu834_Pro843delinsAla
ENST00000374708.8:c.2564_2590del ENSP00000363840.4:p.Glu855_Pro864delinsAla
ENST00000477772.1:n.272+4403_272+4429del
NM_080679.2:c.2501_2527del NP_542410.2:p.Glu834_Pro843delinsAla
NM_080680.2:c.2822_2848del NP_542411.2:p.Glu941_Pro950delinsAla
NM_080681.2:c.2564_2590del NP_542412.2:p.Glu855_Pro864delinsAla
XM_011514298.1:c.1976_2002del XP_011512600.1:p.Glu659_Pro668delinsAla
XM_011514299.1:c.2108_2134del XP_011512601.1:p.Glu703_Pro712delinsAla
XM_011514300.1:c.1928_1954del XP_011512602.1:p.Glu643_Pro652delinsAla
XM_011514301.1:c.1865_1891del XP_011512603.1:p.Glu622_Pro631delinsAla
XM_011514302.1:c.1709_1735del XP_011512604.1:p.Glu570_Pro579delinsAla
XM_011514299.2:c.2108_2134del XP_011512601.1:p.Glu703_Pro712delinsAla
XM_011514300.2:c.1928_1954del XP_011512602.1:p.Glu643_Pro652delinsAla
XM_011514302.2:c.1709_1735del XP_011512604.1:p.Glu570_Pro579delinsAla
XM_017010250.1:c.2822_2848del XP_016865739.1:p.Glu941_Pro950delinsAla
XM_017010251.2:c.1640_1666del XP_016865740.1:p.Glu547_Pro556delinsAla
NM_080680.3:c.2822_2848del MANE Select NP_542411.2:p.Glu941_Pro950delinsAla
NM_080681.3:c.2564_2590del NP_542412.2:p.Glu855_Pro864delinsAla
NM_080679.3:c.2501_2527del NP_542410.2:p.Glu834_Pro843delinsAla
Search 100 bp 5'
Search 100 bp 3'