Canonical Allele Identifier: CA127119
Gene: COL9A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.70281388dup , CM000668.2:g.70281388dup GRCh38
NC_000006.11:g.70991091dup , CM000668.1:g.70991091dup GRCh37
NC_000006.10:g.71047812dup NCBI36
NG_011654.1:g.26696dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683980.2:c.147+2dup ENSP00000506990.1:n.147+2dup
ENST00000683758.1:c.147+2dup ENSP00000508147.1:n.147+2dup
ENST00000683980.1:c.147+2dup ENSP00000506990.1:n.147+2dup
ENST00000684176.1:n.218+2dup
ENST00000320755.12:c.147+2dup ENSP00000315252.7:n.147+2dup
ENST00000357250.11:c.876+2dup MANE Select ENSP00000349790.6:n.876+2dup
ENST00000644493.1:c.147+2dup ENSP00000495638.1:n.147+2dup
ENST00000320755.11:c.147+2dup ENSP00000315252.7:n.147+2dup
ENST00000357250.10:c.876+2dup ENSP00000349790.6:n.876+2dup
ENST00000370496.3:c.876+2dup ENSP00000359527.3:n.876+2dup
NM_001851.4:c.876+2dup NP_001842.3:n.876+2dup
NM_078485.3:c.147+2dup NP_511040.2:n.147+2dup
XM_011535429.1:c.876+2dup XP_011533731.1:n.876+2dup
XM_011535430.1:c.147+2dup XP_011533732.1:n.147+2dup
XM_011535429.3:c.876+2dup XP_011533731.1:n.876+2dup
XM_011535430.3:c.147+2dup XP_011533732.1:n.147+2dup
XM_017010246.2:c.327+2dup XP_016865735.1:n.327+2dup
NM_001377289.1:c.147+2dup NP_001364218.1:n.147+2dup
NM_001377290.1:c.147+2dup NP_001364219.1:n.147+2dup
NM_001377291.1:c.876+2dup NP_001364220.1:n.876+2dup
NM_001851.5:c.876+2dup NP_001842.3:n.876+2dup
NM_078485.4:c.147+2dup NP_511040.2:n.147+2dup
NR_165185.1:n.292+2dup
NM_001851.6:c.876+2dup MANE Select NP_001842.3:n.876+2dup
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