Canonical Allele Identifier: CA2678226463

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164550-G-GAGGGGGAGAGAGAGGGCTGGCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164550_33164551insAGGGGGAGAGAGAGGGCTGGCCTCA , CM000668.2:g.33164550_33164551insAGGGGGAGAGAGAGGGCTGGCCTCA	GRCh38
NC_000006.11:g.33132327_33132328insAGGGGGAGAGAGAGGGCTGGCCTCA , CM000668.1:g.33132327_33132328insAGGGGGAGAGAGAGGGCTGGCCTCA	GRCh37
NC_000006.10:g.33240305_33240306insAGGGGGAGAGAGAGGGCTGGCCTCA	NCBI36
NG_011589.1:g.32918_32919insTGAGGCCAGCCCTCTCTCTCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-78_670-77insTGAGGCCAGCCCTCTCTCTCCCCCT
ENST00000341947.7:c.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT MANE Select	ENSP00000339915.2:n.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCC...
ENST00000341947.6:c.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT	ENSP00000339915.2:n.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCC...
ENST00000361917.5:c.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCCCT	ENSP00000355123.1:n.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCC...
ENST00000374708.8:c.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCCCT	ENSP00000363840.4:n.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCC...
ENST00000477772.1:n.654-78_654-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080679.2:c.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCCCT	NP_542410.2:n.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080680.2:c.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT	NP_542411.2:n.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080681.2:c.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCCCT	NP_542412.2:n.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514298.1:c.4018-78_4018-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512600.1:n.4018-78_4018-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514299.1:c.4150-78_4150-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512601.1:n.4150-78_4150-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514300.1:c.3970-78_3970-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512602.1:n.3970-78_3970-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514301.1:c.3907-78_3907-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512603.1:n.3907-78_3907-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514302.1:c.3751-78_3751-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512604.1:n.3751-78_3751-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514299.2:c.4150-78_4150-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512601.1:n.4150-78_4150-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514300.2:c.3970-78_3970-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512602.1:n.3970-78_3970-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_011514302.2:c.3751-78_3751-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_011512604.1:n.3751-78_3751-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_017010250.1:c.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_016865739.1:n.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT
XM_017010251.2:c.3682-78_3682-77insTGAGGCCAGCCCTCTCTCTCCCCCT	XP_016865740.1:n.3682-78_3682-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080680.3:c.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT MANE Select	NP_542411.2:n.4864-78_4864-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080681.3:c.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCCCT	NP_542412.2:n.4606-78_4606-77insTGAGGCCAGCCCTCTCTCTCCCCCT
NM_080679.3:c.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCCCT	NP_542410.2:n.4543-78_4543-77insTGAGGCCAGCCCTCTCTCTCCCCCT