Canonical Allele Identifier: CA2034474434

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975685_47975700delinsTAGAGTGTCCCTCTTC , CM000674.2:g.47975685_47975700delinsTAGAGTGTCCCTCTTC	GRCh38
NC_000012.11:g.48369468_48369483delinsTAGAGTGTCCCTCTTC , CM000674.1:g.48369468_48369483delinsTAGAGTGTCCCTCTTC	GRCh37
NC_000012.10:g.46655735_46655750delinsTAGAGTGTCCCTCTTC	NCBI36
NG_008072.1:g.33803_33818delinsGAAGAGGGACACTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3391-95_3391-80delinsGAAGAGGGACACTCTA	ENSP00000338213.6:n.3391-95_3391-80delinsGAAGAGGGACACTCTA
ENST00000380518.8:c.3598-95_3598-80delinsGAAGAGGGACACTCTA MANE Select	ENSP00000369889.3:n.3598-95_3598-80delinsGAAGAGGGACACTCTA
ENST00000337299.6:c.3391-95_3391-80delinsGAAGAGGGACACTCTA	ENSP00000338213.6:n.3391-95_3391-80delinsGAAGAGGGACACTCTA
ENST00000380518.7:c.3598-95_3598-80delinsGAAGAGGGACACTCTA	ENSP00000369889.3:n.3598-95_3598-80delinsGAAGAGGGACACTCTA
ENST00000493991.5:n.2684-95_2684-80delinsGAAGAGGGACACTCTA
ENST00000546974.1:n.451-95_451-80delinsGAAGAGGGACACTCTA
NM_001844.4:c.3598-95_3598-80delinsGAAGAGGGACACTCTA	NP_001835.3:n.3598-95_3598-80delinsGAAGAGGGACACTCTA
NM_033150.2:c.3391-95_3391-80delinsGAAGAGGGACACTCTA	NP_149162.2:n.3391-95_3391-80delinsGAAGAGGGACACTCTA
XM_006719242.2:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_006719305.2:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537928.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536230.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537929.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536231.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537930.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536232.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537931.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536233.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537932.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536234.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537933.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_011536235.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_011537934.1:c.3739-95_3739-80delinsGAAGAGGGACACTCTA	XP_011536236.1:n.3739-95_3739-80delinsGAAGAGGGACACTCTA
XM_011537935.1:c.2686-95_2686-80delinsGAAGAGGGACACTCTA	XP_011536237.1:n.2686-95_2686-80delinsGAAGAGGGACACTCTA
XM_017018828.1:c.3742-95_3742-80delinsGAAGAGGGACACTCTA	XP_016874317.1:n.3742-95_3742-80delinsGAAGAGGGACACTCTA
XM_017018829.1:c.3739-95_3739-80delinsGAAGAGGGACACTCTA	XP_016874318.1:n.3739-95_3739-80delinsGAAGAGGGACACTCTA
XM_017018830.1:c.3532-95_3532-80delinsGAAGAGGGACACTCTA	XP_016874319.1:n.3532-95_3532-80delinsGAAGAGGGACACTCTA
XM_017018831.2:c.3052-95_3052-80delinsGAAGAGGGACACTCTA	XP_016874320.1:n.3052-95_3052-80delinsGAAGAGGGACACTCTA
NM_001844.5:c.3598-95_3598-80delinsGAAGAGGGACACTCTA MANE Select	NP_001835.3:n.3598-95_3598-80delinsGAAGAGGGACACTCTA
NM_033150.3:c.3391-95_3391-80delinsGAAGAGGGACACTCTA	NP_149162.2:n.3391-95_3391-80delinsGAAGAGGGACACTCTA