Canonical Allele Identifier: CA1619896310

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169750_33169753delinsAAGG , CM000668.2:g.33169750_33169753delinsAAGG	GRCh38
NC_000006.11:g.33137527_33137530delinsAAGG , CM000668.1:g.33137527_33137530delinsAAGG	GRCh37
NC_000006.10:g.33245505_33245508delinsAAGG	NCBI36
NG_011589.1:g.27716_27719delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+78_3690+81delinsCCTT MANE Select	ENSP00000339915.2:n.3690+78_3690+81delinsCCTT
ENST00000341947.6:c.3690+78_3690+81delinsCCTT	ENSP00000339915.2:n.3690+78_3690+81delinsCCTT
ENST00000361917.5:c.3369+78_3369+81delinsCCTT	ENSP00000355123.1:n.3369+78_3369+81delinsCCTT
ENST00000374708.8:c.3432+78_3432+81delinsCCTT	ENSP00000363840.4:n.3432+78_3432+81delinsCCTT
ENST00000477772.1:n.273-3937_273-3934delinsCCTT
NM_080679.2:c.3369+78_3369+81delinsCCTT	NP_542410.2:n.3369+78_3369+81delinsCCTT
NM_080680.2:c.3690+78_3690+81delinsCCTT	NP_542411.2:n.3690+78_3690+81delinsCCTT
NM_080681.2:c.3432+78_3432+81delinsCCTT	NP_542412.2:n.3432+78_3432+81delinsCCTT
XM_011514298.1:c.2844+78_2844+81delinsCCTT	XP_011512600.1:n.2844+78_2844+81delinsCCTT
XM_011514299.1:c.2976+78_2976+81delinsCCTT	XP_011512601.1:n.2976+78_2976+81delinsCCTT
XM_011514300.1:c.2796+78_2796+81delinsCCTT	XP_011512602.1:n.2796+78_2796+81delinsCCTT
XM_011514301.1:c.2733+78_2733+81delinsCCTT	XP_011512603.1:n.2733+78_2733+81delinsCCTT
XM_011514302.1:c.2577+78_2577+81delinsCCTT	XP_011512604.1:n.2577+78_2577+81delinsCCTT
XM_011514299.2:c.2976+78_2976+81delinsCCTT	XP_011512601.1:n.2976+78_2976+81delinsCCTT
XM_011514300.2:c.2796+78_2796+81delinsCCTT	XP_011512602.1:n.2796+78_2796+81delinsCCTT
XM_011514302.2:c.2577+78_2577+81delinsCCTT	XP_011512604.1:n.2577+78_2577+81delinsCCTT
XM_017010250.1:c.3690+78_3690+81delinsCCTT	XP_016865739.1:n.3690+78_3690+81delinsCCTT
XM_017010251.2:c.2508+78_2508+81delinsCCTT	XP_016865740.1:n.2508+78_2508+81delinsCCTT
NM_080680.3:c.3690+78_3690+81delinsCCTT MANE Select	NP_542411.2:n.3690+78_3690+81delinsCCTT
NM_080681.3:c.3432+78_3432+81delinsCCTT	NP_542412.2:n.3432+78_3432+81delinsCCTT
NM_080679.3:c.3369+78_3369+81delinsCCTT	NP_542410.2:n.3369+78_3369+81delinsCCTT