Canonical Allele Identifier: CA2034477515

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993769_47993770delinsCT , CM000674.2:g.47993769_47993770delinsCT	GRCh38
NC_000012.11:g.48387552_48387553delinsCT , CM000674.1:g.48387552_48387553delinsCT	GRCh37
NC_000012.10:g.46673819_46673820delinsCT	NCBI36
NG_008072.1:g.15733_15734delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.717+39_717+40delinsAG	ENSP00000338213.6:n.717+39_717+40delinsAG
ENST00000380518.8:c.924+39_924+40delinsAG MANE Select	ENSP00000369889.3:n.924+39_924+40delinsAG
ENST00000337299.6:c.717+39_717+40delinsAG	ENSP00000338213.6:n.717+39_717+40delinsAG
ENST00000380518.7:c.924+39_924+40delinsAG	ENSP00000369889.3:n.924+39_924+40delinsAG
NM_001844.4:c.924+39_924+40delinsAG	NP_001835.3:n.924+39_924+40delinsAG
NM_033150.2:c.717+39_717+40delinsAG	NP_149162.2:n.717+39_717+40delinsAG
XM_006719242.2:c.1068+39_1068+40delinsAG	XP_006719305.2:n.1068+39_1068+40delinsAG
XM_011537928.1:c.1068+39_1068+40delinsAG	XP_011536230.1:n.1068+39_1068+40delinsAG
XM_011537929.1:c.1068+39_1068+40delinsAG	XP_011536231.1:n.1068+39_1068+40delinsAG
XM_011537930.1:c.1068+39_1068+40delinsAG	XP_011536232.1:n.1068+39_1068+40delinsAG
XM_011537931.1:c.1068+39_1068+40delinsAG	XP_011536233.1:n.1068+39_1068+40delinsAG
XM_011537932.1:c.1068+39_1068+40delinsAG	XP_011536234.1:n.1068+39_1068+40delinsAG
XM_011537933.1:c.1068+39_1068+40delinsAG	XP_011536235.1:n.1068+39_1068+40delinsAG
XM_011537934.1:c.1065+39_1065+40delinsAG	XP_011536236.1:n.1065+39_1065+40delinsAG
XM_017018828.1:c.1068+39_1068+40delinsAG	XP_016874317.1:n.1068+39_1068+40delinsAG
XM_017018829.1:c.1065+39_1065+40delinsAG	XP_016874318.1:n.1065+39_1065+40delinsAG
XM_017018830.1:c.858+39_858+40delinsAG	XP_016874319.1:n.858+39_858+40delinsAG
XM_017018831.2:c.378+39_378+40delinsAG	XP_016874320.1:n.378+39_378+40delinsAG
NM_001844.5:c.924+39_924+40delinsAG MANE Select	NP_001835.3:n.924+39_924+40delinsAG
NM_033150.3:c.717+39_717+40delinsAG	NP_149162.2:n.717+39_717+40delinsAG