Canonical Allele Identifier: CA140847474

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70234257_70234258del , CM000668.2:g.70234257_70234258del	GRCh38
NC_000006.11:g.70943960_70943961del , CM000668.1:g.70943960_70943961del	GRCh37
NC_000006.10:g.71000681_71000682del	NCBI36
NG_011654.1:g.73847_73848del

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.2314+302_2314+303del MANE Select	NP_001842.3:n.2314+302_2314+303del
ENST00000357250.11:c.2314+302_2314+303del MANE Select	ENSP00000349790.6:n.2314+302_2314+303del
NM_001377289.1:c.1615+302_1615+303del	NP_001364218.1:n.1615+302_1615+303del
NM_001377290.1:c.1438+302_1438+303del	NP_001364219.1:n.1438+302_1438+303del
NM_001851.4:c.2314+302_2314+303del	NP_001842.3:n.2314+302_2314+303del
NM_001851.5:c.2314+302_2314+303del	NP_001842.3:n.2314+302_2314+303del
NM_078485.3:c.1585+302_1585+303del	NP_511040.2:n.1585+302_1585+303del
NM_078485.4:c.1585+302_1585+303del	NP_511040.2:n.1585+302_1585+303del
NR_165185.1:n.1835+302_1835+303del
ENST00000320755.11:c.1585+302_1585+303del	ENSP00000315252.7:n.1585+302_1585+303del
ENST00000320755.12:c.1585+302_1585+303del	ENSP00000315252.7:n.1585+302_1585+303del
ENST00000357250.10:c.2314+302_2314+303del	ENSP00000349790.6:n.2314+302_2314+303del
ENST00000360859.11:n.1000+302_1000+303del
ENST00000360859.12:n.1000+302_1000+303del
ENST00000486080.5:n.1019+302_1019+303del
ENST00000489611.5:n.1334+302_1334+303del
ENST00000493682.7:n.2308+302_2308+303del
ENST00000644493.1:c.*1351+302_*1351+303del	ENSP00000495638.1:n.*1351+302_*1351+303del
ENST00000682313.1:n.1364+302_1364+303del
ENST00000683602.1:n.3051+302_3051+303del
ENST00000683758.1:c.1447+302_1447+303del	ENSP00000508147.1:n.1447+302_1447+303del
ENST00000683980.1:c.1615+302_1615+303del	ENSP00000506990.1:n.1615+302_1615+303del
ENST00000683980.2:c.1615+302_1615+303del	ENSP00000506990.1:n.1615+302_1615+303del
ENST00000684176.1:n.1656+302_1656+303del
XM_011535429.1:c.2344+302_2344+303del	XP_011533731.1:n.2344+302_2344+303del
XM_011535429.3:c.2344+302_2344+303del	XP_011533731.1:n.2344+302_2344+303del
XM_011535430.1:c.1615+302_1615+303del	XP_011533732.1:n.1615+302_1615+303del
XM_011535430.3:c.1615+302_1615+303del	XP_011533732.1:n.1615+302_1615+303del
XM_011535431.1:c.1006+302_1006+303del	XP_011533733.1:n.1006+302_1006+303del
XM_017010246.2:c.1795+302_1795+303del	XP_016865735.1:n.1795+302_1795+303del
XM_017010247.2:c.1063+302_1063+303del	XP_016865736.1:n.1063+302_1063+303del