Canonical Allele Identifier: CA1087647603

Gene: COL11A2

Linked Data

• dbSNP Id: rs1768842462
• gnomAD v3: 6-33164707-GAAGA-G
• gnomAD v4: 6-33164707-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164712_33164715del , CM000668.2:g.33164712_33164715del	GRCh38
NC_000006.11:g.33132489_33132492del , CM000668.1:g.33132489_33132492del	GRCh37
NC_000006.10:g.33240467_33240470del	NCBI36
NG_011589.1:g.32758_32761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.669+141_669+144del
ENST00000341947.7:c.4863+141_4863+144del MANE Select	ENSP00000339915.2:n.4863+141_4863+144del
ENST00000341947.6:c.4863+141_4863+144del	ENSP00000339915.2:n.4863+141_4863+144del
ENST00000361917.5:c.4542+141_4542+144del	ENSP00000355123.1:n.4542+141_4542+144del
ENST00000374708.8:c.4605+141_4605+144del	ENSP00000363840.4:n.4605+141_4605+144del
ENST00000477772.1:n.653+141_653+144del
NM_080679.2:c.4542+141_4542+144del	NP_542410.2:n.4542+141_4542+144del
NM_080680.2:c.4863+141_4863+144del	NP_542411.2:n.4863+141_4863+144del
NM_080681.2:c.4605+141_4605+144del	NP_542412.2:n.4605+141_4605+144del
XM_011514298.1:c.4017+141_4017+144del	XP_011512600.1:n.4017+141_4017+144del
XM_011514299.1:c.4149+141_4149+144del	XP_011512601.1:n.4149+141_4149+144del
XM_011514300.1:c.3969+141_3969+144del	XP_011512602.1:n.3969+141_3969+144del
XM_011514301.1:c.3906+141_3906+144del	XP_011512603.1:n.3906+141_3906+144del
XM_011514302.1:c.3750+141_3750+144del	XP_011512604.1:n.3750+141_3750+144del
XM_011514299.2:c.4149+141_4149+144del	XP_011512601.1:n.4149+141_4149+144del
XM_011514300.2:c.3969+141_3969+144del	XP_011512602.1:n.3969+141_3969+144del
XM_011514302.2:c.3750+141_3750+144del	XP_011512604.1:n.3750+141_3750+144del
XM_017010250.1:c.4863+141_4863+144del	XP_016865739.1:n.4863+141_4863+144del
XM_017010251.2:c.3681+141_3681+144del	XP_016865740.1:n.3681+141_3681+144del
NM_080680.3:c.4863+141_4863+144del MANE Select	NP_542411.2:n.4863+141_4863+144del
NM_080681.3:c.4605+141_4605+144del	NP_542412.2:n.4605+141_4605+144del
NM_080679.3:c.4542+141_4542+144del	NP_542410.2:n.4542+141_4542+144del