Canonical Allele Identifier: CA1619896312
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33169761_33169762delinsAG , CM000668.2:g.33169761_33169762delinsAG GRCh38
NC_000006.11:g.33137538_33137539delinsAG , CM000668.1:g.33137538_33137539delinsAG GRCh37
NC_000006.10:g.33245516_33245517delinsAG NCBI36
NG_011589.1:g.27707_27708delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3690+69_3690+70delinsCT MANE Select ENSP00000339915.2:n.3690+69_3690+70delinsCT
ENST00000341947.6:c.3690+69_3690+70delinsCT ENSP00000339915.2:n.3690+69_3690+70delinsCT
ENST00000361917.5:c.3369+69_3369+70delinsCT ENSP00000355123.1:n.3369+69_3369+70delinsCT
ENST00000374708.8:c.3432+69_3432+70delinsCT ENSP00000363840.4:n.3432+69_3432+70delinsCT
ENST00000477772.1:n.273-3946_273-3945delinsCT
NM_080679.2:c.3369+69_3369+70delinsCT NP_542410.2:n.3369+69_3369+70delinsCT
NM_080680.2:c.3690+69_3690+70delinsCT NP_542411.2:n.3690+69_3690+70delinsCT
NM_080681.2:c.3432+69_3432+70delinsCT NP_542412.2:n.3432+69_3432+70delinsCT
XM_011514298.1:c.2844+69_2844+70delinsCT XP_011512600.1:n.2844+69_2844+70delinsCT
XM_011514299.1:c.2976+69_2976+70delinsCT XP_011512601.1:n.2976+69_2976+70delinsCT
XM_011514300.1:c.2796+69_2796+70delinsCT XP_011512602.1:n.2796+69_2796+70delinsCT
XM_011514301.1:c.2733+69_2733+70delinsCT XP_011512603.1:n.2733+69_2733+70delinsCT
XM_011514302.1:c.2577+69_2577+70delinsCT XP_011512604.1:n.2577+69_2577+70delinsCT
XM_011514299.2:c.2976+69_2976+70delinsCT XP_011512601.1:n.2976+69_2976+70delinsCT
XM_011514300.2:c.2796+69_2796+70delinsCT XP_011512602.1:n.2796+69_2796+70delinsCT
XM_011514302.2:c.2577+69_2577+70delinsCT XP_011512604.1:n.2577+69_2577+70delinsCT
XM_017010250.1:c.3690+69_3690+70delinsCT XP_016865739.1:n.3690+69_3690+70delinsCT
XM_017010251.2:c.2508+69_2508+70delinsCT XP_016865740.1:n.2508+69_2508+70delinsCT
NM_080680.3:c.3690+69_3690+70delinsCT MANE Select NP_542411.2:n.3690+69_3690+70delinsCT
NM_080681.3:c.3432+69_3432+70delinsCT NP_542412.2:n.3432+69_3432+70delinsCT
NM_080679.3:c.3369+69_3369+70delinsCT NP_542410.2:n.3369+69_3369+70delinsCT