Canonical Allele Identifier: CA16621841

Gene: COL9A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.1266dup	ENSP00000506990.1:p.Pro423AlafsTer10
ENST00000360859.12:n.651dup
ENST00000493682.7:n.1959dup
ENST00000683602.1:n.2702dup
ENST00000683758.1:c.1236dup	ENSP00000508147.1:p.Pro413AlafsTer10
ENST00000683980.1:c.1266dup	ENSP00000506990.1:p.Pro423AlafsTer10
ENST00000684176.1:n.1307dup
ENST00000320755.12:c.1236dup	ENSP00000315252.7:p.Pro413AlafsTer10
ENST00000357250.11:c.1965dup MANE Select	ENSP00000349790.6:p.Pro656AlafsTer10
ENST00000360859.11:n.651dup
ENST00000644493.1:c.*1002dup	ENSP00000495638.1:n.*1002dup
ENST00000320755.11:c.1236dup	ENSP00000315252.7:p.Pro413AlafsTer10
ENST00000357250.10:c.1965dup	ENSP00000349790.6:p.Pro656AlafsTer10
ENST00000360859.10:n.611dup
ENST00000447041.6:n.362dup
ENST00000486080.5:n.704-543dup
ENST00000489611.5:n.1019-543dup
ENST00000493682.6:n.938dup
NM_001851.4:c.1965dup	NP_001842.3:p.Pro656AlafsTer10
NM_078485.3:c.1236dup	NP_511040.2:p.Pro413AlafsTer10
XM_011535429.1:c.1995dup	XP_011533731.1:p.Pro666AlafsTer10
XM_011535430.1:c.1266dup	XP_011533732.1:p.Pro423AlafsTer10
XM_011535431.1:c.657dup	XP_011533733.1:p.Pro220AlafsTer10
XM_011535429.3:c.1995dup	XP_011533731.1:p.Pro666AlafsTer10
XM_011535430.3:c.1266dup	XP_011533732.1:p.Pro423AlafsTer10
XM_017010246.2:c.1446dup	XP_016865735.1:p.Pro483AlafsTer10
XM_017010247.2:c.714dup	XP_016865736.1:p.Pro239AlafsTer10
NM_001377289.1:c.1266dup	NP_001364218.1:p.Pro423AlafsTer10
NM_001377290.1:c.1236dup	NP_001364219.1:p.Pro413AlafsTer10
NM_001851.5:c.1965dup	NP_001842.3:p.Pro656AlafsTer10
NM_078485.4:c.1236dup	NP_511040.2:p.Pro413AlafsTer10
NR_165185.1:n.1486dup
NM_001851.6:c.1965dup MANE Select	NP_001842.3:p.Pro656AlafsTer10