Canonical Allele Identifier: CA1619889914
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164479_33164505delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG , CM000668.2:g.33164479_33164505delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG GRCh38
NC_000006.11:g.33132256_33132282delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG , CM000668.1:g.33132256_33132282delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG GRCh37
NC_000006.10:g.33240234_33240260delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG NCBI36
NG_011589.1:g.32964_32990delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT

Transcript Alleles

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