Canonical Allele Identifier: CA1619898387

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174439_33174447delinsCTGCATCTG , CM000668.2:g.33174439_33174447delinsCTGCATCTG	GRCh38
NC_000006.11:g.33142216_33142224delinsCTGCATCTG , CM000668.1:g.33142216_33142224delinsCTGCATCTG	GRCh37
NC_000006.10:g.33250194_33250202delinsCTGCATCTG	NCBI36
NG_011589.1:g.23022_23030delinsCAGATGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.1003+80_1003+88delinsCAGATGCAG
ENST00000341947.7:c.2430+80_2430+88delinsCAGATGCAG MANE Select	ENSP00000339915.2:n.2430+80_2430+88delinsCAGATGCAG
ENST00000341947.6:c.2430+80_2430+88delinsCAGATGCAG	ENSP00000339915.2:n.2430+80_2430+88delinsCAGATGCAG
ENST00000361917.5:c.2109+80_2109+88delinsCAGATGCAG	ENSP00000355123.1:n.2109+80_2109+88delinsCAGATGCAG
ENST00000374708.8:c.2172+80_2172+88delinsCAGATGCAG	ENSP00000363840.4:n.2172+80_2172+88delinsCAGATGCAG
ENST00000477772.1:n.272+2562_272+2570delinsCAGATGCAG
NM_080679.2:c.2109+80_2109+88delinsCAGATGCAG	NP_542410.2:n.2109+80_2109+88delinsCAGATGCAG
NM_080680.2:c.2430+80_2430+88delinsCAGATGCAG	NP_542411.2:n.2430+80_2430+88delinsCAGATGCAG
NM_080681.2:c.2172+80_2172+88delinsCAGATGCAG	NP_542412.2:n.2172+80_2172+88delinsCAGATGCAG
XM_011514298.1:c.1584+80_1584+88delinsCAGATGCAG	XP_011512600.1:n.1584+80_1584+88delinsCAGATGCAG
XM_011514299.1:c.1716+80_1716+88delinsCAGATGCAG	XP_011512601.1:n.1716+80_1716+88delinsCAGATGCAG
XM_011514300.1:c.1536+80_1536+88delinsCAGATGCAG	XP_011512602.1:n.1536+80_1536+88delinsCAGATGCAG
XM_011514301.1:c.1473+80_1473+88delinsCAGATGCAG	XP_011512603.1:n.1473+80_1473+88delinsCAGATGCAG
XM_011514302.1:c.1317+80_1317+88delinsCAGATGCAG	XP_011512604.1:n.1317+80_1317+88delinsCAGATGCAG
XM_011514299.2:c.1716+80_1716+88delinsCAGATGCAG	XP_011512601.1:n.1716+80_1716+88delinsCAGATGCAG
XM_011514300.2:c.1536+80_1536+88delinsCAGATGCAG	XP_011512602.1:n.1536+80_1536+88delinsCAGATGCAG
XM_011514302.2:c.1317+80_1317+88delinsCAGATGCAG	XP_011512604.1:n.1317+80_1317+88delinsCAGATGCAG
XM_017010250.1:c.2430+80_2430+88delinsCAGATGCAG	XP_016865739.1:n.2430+80_2430+88delinsCAGATGCAG
XM_017010251.2:c.1248+80_1248+88delinsCAGATGCAG	XP_016865740.1:n.1248+80_1248+88delinsCAGATGCAG
NM_080680.3:c.2430+80_2430+88delinsCAGATGCAG MANE Select	NP_542411.2:n.2430+80_2430+88delinsCAGATGCAG
NM_080681.3:c.2172+80_2172+88delinsCAGATGCAG	NP_542412.2:n.2172+80_2172+88delinsCAGATGCAG
NM_080679.3:c.2109+80_2109+88delinsCAGATGCAG	NP_542410.2:n.2109+80_2109+88delinsCAGATGCAG