Canonical Allele Identifier: CA2678226912

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164888-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164893del , CM000668.2:g.33164893del	GRCh38
NC_000006.11:g.33132670del , CM000668.1:g.33132670del	GRCh37
NC_000006.10:g.33240648del	NCBI36
NG_011589.1:g.32580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.632del
ENST00000341947.7:c.4826del MANE Select	ENSP00000339915.2:p.Gly1609ValfsTer5
ENST00000341947.6:c.4826del	ENSP00000339915.2:p.Gly1609ValfsTer5
ENST00000361917.5:c.4505del	ENSP00000355123.1:p.Gly1502ValfsTer5
ENST00000374708.8:c.4568del	ENSP00000363840.4:p.Gly1523ValfsTer5
ENST00000477772.1:n.616del
NM_080679.2:c.4505del	NP_542410.2:p.Gly1502ValfsTer5
NM_080680.2:c.4826del	NP_542411.2:p.Gly1609ValfsTer5
NM_080681.2:c.4568del	NP_542412.2:p.Gly1523ValfsTer5
XM_011514298.1:c.3980del	XP_011512600.1:p.Gly1327ValfsTer5
XM_011514299.1:c.4112del	XP_011512601.1:p.Gly1371ValfsTer5
XM_011514300.1:c.3932del	XP_011512602.1:p.Gly1311ValfsTer5
XM_011514301.1:c.3869del	XP_011512603.1:p.Gly1290ValfsTer5
XM_011514302.1:c.3713del	XP_011512604.1:p.Gly1238ValfsTer5
XM_011514299.2:c.4112del	XP_011512601.1:p.Gly1371ValfsTer5
XM_011514300.2:c.3932del	XP_011512602.1:p.Gly1311ValfsTer5
XM_011514302.2:c.3713del	XP_011512604.1:p.Gly1238ValfsTer5
XM_017010250.1:c.4826del	XP_016865739.1:p.Gly1609ValfsTer5
XM_017010251.2:c.3644del	XP_016865740.1:p.Gly1215ValfsTer5
NM_080680.3:c.4826del MANE Select	NP_542411.2:p.Gly1609ValfsTer5
NM_080681.3:c.4568del	NP_542412.2:p.Gly1523ValfsTer5
NM_080679.3:c.4505del	NP_542410.2:p.Gly1502ValfsTer5