Canonical Allele Identifier: CA2618513614

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47993675-TAGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993676_47993680del , CM000674.2:g.47993676_47993680del	GRCh38
NC_000012.11:g.48387459_48387463del , CM000674.1:g.48387459_48387463del	GRCh37
NC_000012.10:g.46673726_46673730del	NCBI36
NG_008072.1:g.15823_15827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.717+129_717+133del	ENSP00000338213.6:n.717+129_717+133del
ENST00000380518.8:c.924+129_924+133del MANE Select	ENSP00000369889.3:n.924+129_924+133del
ENST00000337299.6:c.717+129_717+133del	ENSP00000338213.6:n.717+129_717+133del
ENST00000380518.7:c.924+129_924+133del	ENSP00000369889.3:n.924+129_924+133del
NM_001844.4:c.924+129_924+133del	NP_001835.3:n.924+129_924+133del
NM_033150.2:c.717+129_717+133del	NP_149162.2:n.717+129_717+133del
XM_006719242.2:c.1068+129_1068+133del	XP_006719305.2:n.1068+129_1068+133del
XM_011537928.1:c.1068+129_1068+133del	XP_011536230.1:n.1068+129_1068+133del
XM_011537929.1:c.1068+129_1068+133del	XP_011536231.1:n.1068+129_1068+133del
XM_011537930.1:c.1068+129_1068+133del	XP_011536232.1:n.1068+129_1068+133del
XM_011537931.1:c.1068+129_1068+133del	XP_011536233.1:n.1068+129_1068+133del
XM_011537932.1:c.1068+129_1068+133del	XP_011536234.1:n.1068+129_1068+133del
XM_011537933.1:c.1068+129_1068+133del	XP_011536235.1:n.1068+129_1068+133del
XM_011537934.1:c.1065+129_1065+133del	XP_011536236.1:n.1065+129_1065+133del
XM_017018828.1:c.1068+129_1068+133del	XP_016874317.1:n.1068+129_1068+133del
XM_017018829.1:c.1065+129_1065+133del	XP_016874318.1:n.1065+129_1065+133del
XM_017018830.1:c.858+129_858+133del	XP_016874319.1:n.858+129_858+133del
XM_017018831.2:c.378+129_378+133del	XP_016874320.1:n.378+129_378+133del
NM_001844.5:c.924+129_924+133del MANE Select	NP_001835.3:n.924+129_924+133del
NM_033150.3:c.717+129_717+133del	NP_149162.2:n.717+129_717+133del