Canonical Allele Identifier: CA140852755

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70239149del , CM000668.2:g.70239149del	GRCh38
NC_000006.11:g.70948852del , CM000668.1:g.70948852del	GRCh37
NC_000006.10:g.71005573del	NCBI36
NG_011654.1:g.68945del

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2112+115del MANE Select	NP_001842.3:n.2112+115del
ENST00000357250.11:c.2112+115del MANE Select	ENSP00000349790.6:n.2112+115del
NM_001377289.1:c.1413+115del	NP_001364218.1:n.1413+115del
NM_001377290.1:c.1383+115del	NP_001364219.1:n.1383+115del
NM_001851.4:c.2112+115del	NP_001842.3:n.2112+115del
NM_001851.5:c.2112+115del	NP_001842.3:n.2112+115del
NM_078485.3:c.1383+115del	NP_511040.2:n.1383+115del
NM_078485.4:c.1383+115del	NP_511040.2:n.1383+115del
NR_165185.1:n.1633+115del
ENST00000320755.11:c.1383+115del	ENSP00000315252.7:n.1383+115del
ENST00000320755.12:c.1383+115del	ENSP00000315252.7:n.1383+115del
ENST00000357250.10:c.2112+115del	ENSP00000349790.6:n.2112+115del
ENST00000360859.11:n.798+115del
ENST00000360859.12:n.798+115del
ENST00000447041.6:n.509+115del
ENST00000486080.5:n.817+115del
ENST00000489611.5:n.1132+115del
ENST00000493682.6:n.1085+115del
ENST00000493682.7:n.2106+115del
ENST00000644493.1:c.*1149+115del	ENSP00000495638.1:n.*1149+115del
ENST00000683602.1:n.2849+115del
ENST00000683758.1:c.1392+106del	ENSP00000508147.1:n.1392+106del
ENST00000683980.1:c.1413+115del	ENSP00000506990.1:n.1413+115del
ENST00000683980.2:c.1413+115del	ENSP00000506990.1:n.1413+115del
ENST00000684176.1:n.1454+115del
XM_011535429.1:c.2142+115del	XP_011533731.1:n.2142+115del
XM_011535429.3:c.2142+115del	XP_011533731.1:n.2142+115del
XM_011535430.1:c.1413+115del	XP_011533732.1:n.1413+115del
XM_011535430.3:c.1413+115del	XP_011533732.1:n.1413+115del
XM_011535431.1:c.804+115del	XP_011533733.1:n.804+115del
XM_017010246.2:c.1593+115del	XP_016865735.1:n.1593+115del
XM_017010247.2:c.861+115del	XP_016865736.1:n.861+115del