Canonical Allele Identifier: CA10627454
Gene: COL9A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.70216667dup , CM000668.2:g.70216667dup GRCh38
NC_000006.11:g.70926370dup , CM000668.1:g.70926370dup GRCh37
NC_000006.10:g.70983091dup NCBI36
NG_011654.1:g.91429dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683980.2:c.*242dup ENSP00000506990.1:n.*242dup
ENST00000360859.12:n.1694dup
ENST00000493682.7:n.3002dup
ENST00000682313.1:n.2058dup
ENST00000683602.1:n.3745dup
ENST00000683758.1:c.*242dup ENSP00000508147.1:n.*242dup
ENST00000683980.1:c.*242dup ENSP00000506990.1:n.*242dup
ENST00000684176.1:n.2350dup
ENST00000320755.12:c.*242dup ENSP00000315252.7:n.*242dup
ENST00000357250.11:c.*242dup MANE Select ENSP00000349790.6:n.*242dup
ENST00000360859.11:n.1694dup
ENST00000320755.11:c.*242dup ENSP00000315252.7:n.*242dup
ENST00000357250.10:c.*242dup ENSP00000349790.6:n.*242dup
ENST00000486080.5:n.1713dup
NM_001851.4:c.*242dup NP_001842.3:n.*242dup
NM_078485.3:c.*242dup NP_511040.2:n.*242dup
XM_011535429.1:c.*242dup XP_011533731.1:n.*242dup
XM_011535430.1:c.*242dup XP_011533732.1:n.*242dup
XM_011535431.1:c.*242dup XP_011533733.1:n.*242dup
XM_011535429.3:c.*242dup XP_011533731.1:n.*242dup
XM_011535430.3:c.*242dup XP_011533732.1:n.*242dup
XM_017010246.2:c.*242dup XP_016865735.1:n.*242dup
XM_017010247.2:c.*242dup XP_016865736.1:n.*242dup
NM_001377289.1:c.*242dup NP_001364218.1:n.*242dup
NM_001377290.1:c.*242dup NP_001364219.1:n.*242dup
NM_001851.5:c.*242dup NP_001842.3:n.*242dup
NM_078485.4:c.*242dup NP_511040.2:n.*242dup
NR_165185.1:n.2529dup
NM_001851.6:c.*242dup MANE Select NP_001842.3:n.*242dup