Canonical Allele Identifier: CA1619890287

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164796_33164797delinsGC , CM000668.2:g.33164796_33164797delinsGC	GRCh38
NC_000006.11:g.33132573_33132574delinsGC , CM000668.1:g.33132573_33132574delinsGC	GRCh37
NC_000006.10:g.33240551_33240552delinsGC	NCBI36
NG_011589.1:g.32672_32673delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.669+55_669+56delinsGC
ENST00000341947.7:c.4863+55_4863+56delinsGC MANE Select	ENSP00000339915.2:n.4863+55_4863+56delins...
ENST00000341947.6:c.4863+55_4863+56delinsGC	ENSP00000339915.2:n.4863+55_4863+56delins...
ENST00000361917.5:c.4542+55_4542+56delinsGC	ENSP00000355123.1:n.4542+55_4542+56delins...
ENST00000374708.8:c.4605+55_4605+56delinsGC	ENSP00000363840.4:n.4605+55_4605+56delins...
ENST00000477772.1:n.653+55_653+56delinsGC
NM_080679.2:c.4542+55_4542+56delinsGC	NP_542410.2:n.4542+55_4542+56delinsGC
NM_080680.2:c.4863+55_4863+56delinsGC	NP_542411.2:n.4863+55_4863+56delinsGC
NM_080681.2:c.4605+55_4605+56delinsGC	NP_542412.2:n.4605+55_4605+56delinsGC
XM_011514298.1:c.4017+55_4017+56delinsGC	XP_011512600.1:n.4017+55_4017+56delinsGC
XM_011514299.1:c.4149+55_4149+56delinsGC	XP_011512601.1:n.4149+55_4149+56delinsGC
XM_011514300.1:c.3969+55_3969+56delinsGC	XP_011512602.1:n.3969+55_3969+56delinsGC
XM_011514301.1:c.3906+55_3906+56delinsGC	XP_011512603.1:n.3906+55_3906+56delinsGC
XM_011514302.1:c.3750+55_3750+56delinsGC	XP_011512604.1:n.3750+55_3750+56delinsGC
XM_011514299.2:c.4149+55_4149+56delinsGC	XP_011512601.1:n.4149+55_4149+56delinsGC
XM_011514300.2:c.3969+55_3969+56delinsGC	XP_011512602.1:n.3969+55_3969+56delinsGC
XM_011514302.2:c.3750+55_3750+56delinsGC	XP_011512604.1:n.3750+55_3750+56delinsGC
XM_017010250.1:c.4863+55_4863+56delinsGC	XP_016865739.1:n.4863+55_4863+56delinsGC
XM_017010251.2:c.3681+55_3681+56delinsGC	XP_016865740.1:n.3681+55_3681+56delinsGC
NM_080680.3:c.4863+55_4863+56delinsGC MANE Select	NP_542411.2:n.4863+55_4863+56delinsGC
NM_080681.3:c.4605+55_4605+56delinsGC	NP_542412.2:n.4605+55_4605+56delinsGC
NM_080679.3:c.4542+55_4542+56delinsGC	NP_542410.2:n.4542+55_4542+56delinsGC