Canonical Allele Identifier: CA2770563340

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164862_33164866del , CM000668.2:g.33164862_33164866del	GRCh38
NC_000006.11:g.33132639_33132643del , CM000668.1:g.33132639_33132643del	GRCh37
NC_000006.10:g.33240617_33240621del	NCBI36
NG_011589.1:g.32603_32607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.655_659del
ENST00000341947.7:c.4849_4853del MANE Select	ENSP00000339915.2:p.Asp1617ArgfsTer?
ENST00000341947.6:c.4849_4853del	ENSP00000339915.2:p.Asp1617ArgfsTer?
ENST00000361917.5:c.4528_4532del	ENSP00000355123.1:p.Asp1510ArgfsTer?
ENST00000374708.8:c.4591_4595del	ENSP00000363840.4:p.Asp1531ArgfsTer?
ENST00000477772.1:n.639_643del
NM_080679.2:c.4528_4532del	NP_542410.2:p.Asp1510ArgfsTer?
NM_080680.2:c.4849_4853del	NP_542411.2:p.Asp1617ArgfsTer?
NM_080681.2:c.4591_4595del	NP_542412.2:p.Asp1531ArgfsTer?
XM_011514298.1:c.4003_4007del	XP_011512600.1:p.Asp1335ArgfsTer?
XM_011514299.1:c.4135_4139del	XP_011512601.1:p.Asp1379ArgfsTer?
XM_011514300.1:c.3955_3959del	XP_011512602.1:p.Asp1319ArgfsTer?
XM_011514301.1:c.3892_3896del	XP_011512603.1:p.Asp1298ArgfsTer?
XM_011514302.1:c.3736_3740del	XP_011512604.1:p.Asp1246ArgfsTer?
XM_011514299.2:c.4135_4139del	XP_011512601.1:p.Asp1379ArgfsTer?
XM_011514300.2:c.3955_3959del	XP_011512602.1:p.Asp1319ArgfsTer?
XM_011514302.2:c.3736_3740del	XP_011512604.1:p.Asp1246ArgfsTer?
XM_017010250.1:c.4849_4853del	XP_016865739.1:p.Asp1617ArgfsTer?
XM_017010251.2:c.3667_3671del	XP_016865740.1:p.Asp1223ArgfsTer?
NM_080680.3:c.4849_4853del MANE Select	NP_542411.2:p.Asp1617ArgfsTer?
NM_080681.3:c.4591_4595del	NP_542412.2:p.Asp1531ArgfsTer?
NM_080679.3:c.4528_4532del	NP_542410.2:p.Asp1510ArgfsTer?