Canonical Allele Identifier: CA2678226377

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164479-A-AGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGGGAGAGGGCTGGCCTCAGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164509_33164510insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG , CM000668.2:g.33164509_33164510insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG	GRCh38
NC_000006.11:g.33132286_33132287insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG , CM000668.1:g.33132286_33132287insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG	GRCh37
NC_000006.10:g.33240264_33240265insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG	NCBI36
NG_011589.1:g.32989_32990insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC
ENST00000341947.7:c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC MANE Select	ENSP00000339915.2:n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTC...
ENST00000341947.6:c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	ENSP00000339915.2:n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTC...
ENST00000361917.5:c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	ENSP00000355123.1:n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTC...
ENST00000374708.8:c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	ENSP00000363840.4:n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTC...
ENST00000477772.1:n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC
NM_080679.2:c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	NP_542410.2:n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...
NM_080680.2:c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	NP_542411.2:n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...
NM_080681.2:c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	NP_542412.2:n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...
XM_011514298.1:c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512600.1:n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514299.1:c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512601.1:n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514300.1:c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512602.1:n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514301.1:c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512603.1:n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514302.1:c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512604.1:n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514299.2:c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512601.1:n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514300.2:c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512602.1:n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_011514302.2:c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_011512604.1:n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_017010250.1:c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_016865739.1:n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
XM_017010251.2:c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	XP_016865740.1:n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCC...
NM_080680.3:c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC MANE Select	NP_542411.2:n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...
NM_080681.3:c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	NP_542412.2:n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...
NM_080679.3:c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC	NP_542410.2:n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTC...