Canonical Allele Identifier: CA2678226402
Gene: COL11A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG , CM000668.2:g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG GRCh38
NC_000006.11:g.33132308_33132309insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG , CM000668.1:g.33132308_33132309insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG GRCh37
NC_000006.10:g.33240286_33240287insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG NCBI36
NG_011589.1:g.32964_32965insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.670-32_670-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC
ENST00000341947.7:c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC MANE Select ENSP00000339915.2:n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCT...
ENST00000341947.6:c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC ENSP00000339915.2:n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCT...
ENST00000361917.5:c.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC ENSP00000355123.1:n.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCT...
ENST00000374708.8:c.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC ENSP00000363840.4:n.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCT...
ENST00000477772.1:n.654-32_654-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC
NM_080679.2:c.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC NP_542410.2:n.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...
NM_080680.2:c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC NP_542411.2:n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...
NM_080681.2:c.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC NP_542412.2:n.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...
XM_011514298.1:c.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512600.1:n.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514299.1:c.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512601.1:n.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514300.1:c.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512602.1:n.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514301.1:c.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512603.1:n.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514302.1:c.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512604.1:n.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514299.2:c.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512601.1:n.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514300.2:c.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512602.1:n.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_011514302.2:c.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_011512604.1:n.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_017010250.1:c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_016865739.1:n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
XM_017010251.2:c.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC XP_016865740.1:n.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCC...
NM_080680.3:c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC MANE Select NP_542411.2:n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...
NM_080681.3:c.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC NP_542412.2:n.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...
NM_080679.3:c.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC NP_542410.2:n.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCT...