Canonical Allele Identifier: CA2695216640

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978034_47978040delinsCCAGG , CM000674.2:g.47978034_47978040delinsCCAGG	GRCh38
NC_000012.11:g.48371817_48371823delinsCCAGG , CM000674.1:g.48371817_48371823delinsCCAGG	GRCh37
NC_000012.10:g.46658084_46658090delinsCCAGG	NCBI36
NG_008072.1:g.31463_31469delinsCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2874_2880delinsCCTGG	ENSP00000338213.6:p.Thr959LeufsTer5
ENST00000380518.8:c.3081_3087delinsCCTGG MANE Select	ENSP00000369889.3:p.Thr1028LeufsTer5
ENST00000337299.6:c.2874_2880delinsCCTGG	ENSP00000338213.6:p.Thr959LeufsTer5
ENST00000380518.7:c.3081_3087delinsCCTGG	ENSP00000369889.3:p.Thr1028LeufsTer5
ENST00000493991.5:n.2167_2173delinsCCTGG
NM_001844.4:c.3081_3087delinsCCTGG	NP_001835.3:p.Thr1028LeufsTer5
NM_033150.2:c.2874_2880delinsCCTGG	NP_149162.2:p.Thr959LeufsTer5
XM_006719242.2:c.3225_3231delinsCCTGG	XP_006719305.2:p.Thr1076LeufsTer5
XM_011537928.1:c.3225_3231delinsCCTGG	XP_011536230.1:p.Thr1076LeufsTer5
XM_011537929.1:c.3225_3231delinsCCTGG	XP_011536231.1:p.Thr1076LeufsTer5
XM_011537930.1:c.3225_3231delinsCCTGG	XP_011536232.1:p.Thr1076LeufsTer5
XM_011537931.1:c.3225_3231delinsCCTGG	XP_011536233.1:p.Thr1076LeufsTer5
XM_011537932.1:c.3225_3231delinsCCTGG	XP_011536234.1:p.Thr1076LeufsTer5
XM_011537933.1:c.3225_3231delinsCCTGG	XP_011536235.1:p.Thr1076LeufsTer5
XM_011537934.1:c.3222_3228delinsCCTGG	XP_011536236.1:p.Thr1075LeufsTer5
XM_011537935.1:c.2169_2175delinsCCTGG	XP_011536237.1:p.Thr724LeufsTer5
XM_017018828.1:c.3225_3231delinsCCTGG	XP_016874317.1:p.Thr1076LeufsTer5
XM_017018829.1:c.3222_3228delinsCCTGG	XP_016874318.1:p.Thr1075LeufsTer5
XM_017018830.1:c.3015_3021delinsCCTGG	XP_016874319.1:p.Thr1006LeufsTer5
XM_017018831.2:c.2535_2541delinsCCTGG	XP_016874320.1:p.Thr846LeufsTer5
NM_001844.5:c.3081_3087delinsCCTGG MANE Select	NP_001835.3:p.Thr1028LeufsTer5
NM_033150.3:c.2874_2880delinsCCTGG	NP_149162.2:p.Thr959LeufsTer5