Canonical Allele Identifier: CA1090276903

Gene: COL9A1

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70241999del , CM000668.2:g.70241999del	GRCh38
NC_000006.11:g.70951702del , CM000668.1:g.70951702del	GRCh37
NC_000006.10:g.71008423del	NCBI36
NG_011654.1:g.66087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1266del	ENSP00000506990.1:p.Pro424LeufsTer6
ENST00000360859.12:n.651del
ENST00000493682.7:n.1959del
ENST00000683602.1:n.2702del
ENST00000683758.1:c.1236del	ENSP00000508147.1:p.Pro414LeufsTer6
ENST00000683980.1:c.1266del	ENSP00000506990.1:p.Pro424LeufsTer6
ENST00000684176.1:n.1307del
ENST00000320755.12:c.1236del	ENSP00000315252.7:p.Pro414LeufsTer6
ENST00000357250.11:c.1965del MANE Select	ENSP00000349790.6:p.Pro657LeufsTer6
ENST00000360859.11:n.651del
ENST00000644493.1:c.*1002del	ENSP00000495638.1:n.*1002del
ENST00000320755.11:c.1236del	ENSP00000315252.7:p.Pro414LeufsTer6
ENST00000357250.10:c.1965del	ENSP00000349790.6:p.Pro657LeufsTer6
ENST00000360859.10:n.611del
ENST00000447041.6:n.362del
ENST00000486080.5:n.704-543del
ENST00000489611.5:n.1019-543del
ENST00000493682.6:n.938del
NM_001851.4:c.1965del	NP_001842.3:p.Pro657LeufsTer6
NM_078485.3:c.1236del	NP_511040.2:p.Pro414LeufsTer6
XM_011535429.1:c.1995del	XP_011533731.1:p.Pro667LeufsTer6
XM_011535430.1:c.1266del	XP_011533732.1:p.Pro424LeufsTer6
XM_011535431.1:c.657del	XP_011533733.1:p.Pro221LeufsTer6
XM_011535429.3:c.1995del	XP_011533731.1:p.Pro667LeufsTer6
XM_011535430.3:c.1266del	XP_011533732.1:p.Pro424LeufsTer6
XM_017010246.2:c.1446del	XP_016865735.1:p.Pro484LeufsTer6
XM_017010247.2:c.714del	XP_016865736.1:p.Pro240LeufsTer6
NM_001377289.1:c.1266del	NP_001364218.1:p.Pro424LeufsTer6
NM_001377290.1:c.1236del	NP_001364219.1:p.Pro414LeufsTer6
NM_001851.5:c.1965del	NP_001842.3:p.Pro657LeufsTer6
NM_078485.4:c.1236del	NP_511040.2:p.Pro414LeufsTer6
NR_165185.1:n.1486del
NM_001851.6:c.1965del MANE Select	NP_001842.3:p.Pro657LeufsTer6