Canonical Allele Identifier: CA2034476734

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978146_47978157delinsTGCAAGTGGTAA , CM000674.2:g.47978146_47978157delinsTGCAAGTGGTAA	GRCh38
NC_000012.11:g.48371929_48371940delinsTGCAAGTGGTAA , CM000674.1:g.48371929_48371940delinsTGCAAGTGGTAA	GRCh37
NC_000012.10:g.46658196_46658207delinsTGCAAGTGGTAA	NCBI36
NG_008072.1:g.31346_31357delinsTTACCACTTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2797-40_2797-29delinsTTACCACTTGCA	ENSP00000338213.6:n.2797-40_2797-29delins...
ENST00000380518.8:c.3004-40_3004-29delinsTTACCACTTGCA MANE Select	ENSP00000369889.3:n.3004-40_3004-29delins...
ENST00000337299.6:c.2797-40_2797-29delinsTTACCACTTGCA	ENSP00000338213.6:n.2797-40_2797-29delins...
ENST00000380518.7:c.3004-40_3004-29delinsTTACCACTTGCA	ENSP00000369889.3:n.3004-40_3004-29delins...
ENST00000493991.5:n.2090-40_2090-29delinsTTACCACTTGCA
NM_001844.4:c.3004-40_3004-29delinsTTACCACTTGCA	NP_001835.3:n.3004-40_3004-29delinsTTACCA...
NM_033150.2:c.2797-40_2797-29delinsTTACCACTTGCA	NP_149162.2:n.2797-40_2797-29delinsTTACCA...
XM_006719242.2:c.3148-40_3148-29delinsTTACCACTTGCA	XP_006719305.2:n.3148-40_3148-29delinsTTA...
XM_011537928.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536230.1:n.3148-40_3148-29delinsTTA...
XM_011537929.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536231.1:n.3148-40_3148-29delinsTTA...
XM_011537930.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536232.1:n.3148-40_3148-29delinsTTA...
XM_011537931.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536233.1:n.3148-40_3148-29delinsTTA...
XM_011537932.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536234.1:n.3148-40_3148-29delinsTTA...
XM_011537933.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_011536235.1:n.3148-40_3148-29delinsTTA...
XM_011537934.1:c.3145-40_3145-29delinsTTACCACTTGCA	XP_011536236.1:n.3145-40_3145-29delinsTTA...
XM_011537935.1:c.2092-40_2092-29delinsTTACCACTTGCA	XP_011536237.1:n.2092-40_2092-29delinsTTA...
XM_017018828.1:c.3148-40_3148-29delinsTTACCACTTGCA	XP_016874317.1:n.3148-40_3148-29delinsTTA...
XM_017018829.1:c.3145-40_3145-29delinsTTACCACTTGCA	XP_016874318.1:n.3145-40_3145-29delinsTTA...
XM_017018830.1:c.2938-40_2938-29delinsTTACCACTTGCA	XP_016874319.1:n.2938-40_2938-29delinsTTA...
XM_017018831.2:c.2458-40_2458-29delinsTTACCACTTGCA	XP_016874320.1:n.2458-40_2458-29delinsTTA...
NM_001844.5:c.3004-40_3004-29delinsTTACCACTTGCA MANE Select	NP_001835.3:n.3004-40_3004-29delinsTTACCA...
NM_033150.3:c.2797-40_2797-29delinsTTACCACTTGCA	NP_149162.2:n.2797-40_2797-29delinsTTACCA...