Canonical Allele Identifier: CA140858761

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70240611_70240612del , CM000668.2:g.70240611_70240612del	GRCh38
NC_000006.11:g.70950314_70950315del , CM000668.1:g.70950314_70950315del	GRCh37
NC_000006.10:g.71007035_71007036del	NCBI36
NG_011654.1:g.67475_67476del

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2079+80_2079+81del MANE Select	NP_001842.3:n.2079+80_2079+81del
ENST00000357250.11:c.2079+80_2079+81del MANE Select	ENSP00000349790.6:n.2079+80_2079+81del
NM_001377289.1:c.1380+80_1380+81del	NP_001364218.1:n.1380+80_1380+81del
NM_001377290.1:c.1350+80_1350+81del	NP_001364219.1:n.1350+80_1350+81del
NM_001851.4:c.2079+80_2079+81del	NP_001842.3:n.2079+80_2079+81del
NM_001851.5:c.2079+80_2079+81del	NP_001842.3:n.2079+80_2079+81del
NM_078485.3:c.1350+80_1350+81del	NP_511040.2:n.1350+80_1350+81del
NM_078485.4:c.1350+80_1350+81del	NP_511040.2:n.1350+80_1350+81del
NR_165185.1:n.1600+80_1600+81del
ENST00000320755.11:c.1350+80_1350+81del	ENSP00000315252.7:n.1350+80_1350+81del
ENST00000320755.12:c.1350+80_1350+81del	ENSP00000315252.7:n.1350+80_1350+81del
ENST00000357250.10:c.2079+80_2079+81del	ENSP00000349790.6:n.2079+80_2079+81del
ENST00000360859.11:n.765+80_765+81del
ENST00000360859.12:n.765+80_765+81del
ENST00000447041.6:n.476+80_476+81del
ENST00000486080.5:n.784+80_784+81del
ENST00000489611.5:n.1099+80_1099+81del
ENST00000493682.6:n.1052+80_1052+81del
ENST00000493682.7:n.2073+80_2073+81del
ENST00000644493.1:c.*1116+80_*1116+81del	ENSP00000495638.1:n.*1116+80_*1116+81del
ENST00000683602.1:n.2816+80_2816+81del
ENST00000683758.1:c.1350+80_1350+81del	ENSP00000508147.1:n.1350+80_1350+81del
ENST00000683980.1:c.1380+80_1380+81del	ENSP00000506990.1:n.1380+80_1380+81del
ENST00000683980.2:c.1380+80_1380+81del	ENSP00000506990.1:n.1380+80_1380+81del
ENST00000684176.1:n.1421+80_1421+81del
XM_011535429.1:c.2109+80_2109+81del	XP_011533731.1:n.2109+80_2109+81del
XM_011535429.3:c.2109+80_2109+81del	XP_011533731.1:n.2109+80_2109+81del
XM_011535430.1:c.1380+80_1380+81del	XP_011533732.1:n.1380+80_1380+81del
XM_011535430.3:c.1380+80_1380+81del	XP_011533732.1:n.1380+80_1380+81del
XM_011535431.1:c.771+80_771+81del	XP_011533733.1:n.771+80_771+81del
XM_017010246.2:c.1560+80_1560+81del	XP_016865735.1:n.1560+80_1560+81del
XM_017010247.2:c.828+80_828+81del	XP_016865736.1:n.828+80_828+81del