Canonical Allele Identifier: CA2678226373

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164433-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164435del , CM000668.2:g.33164435del	GRCh38
NC_000006.11:g.33132212del , CM000668.1:g.33132212del	GRCh37
NC_000006.10:g.33240190del	NCBI36
NG_011589.1:g.33035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.709del
ENST00000341947.7:c.4903del MANE Select	ENSP00000339915.2:p.Val1635SerfsTer30
ENST00000341947.6:c.4903del	ENSP00000339915.2:p.Val1635SerfsTer30
ENST00000361917.5:c.4582del	ENSP00000355123.1:p.Val1528SerfsTer30
ENST00000374708.8:c.4645del	ENSP00000363840.4:p.Val1549SerfsTer30
ENST00000477772.1:n.693del
NM_080679.2:c.4582del	NP_542410.2:p.Val1528SerfsTer30
NM_080680.2:c.4903del	NP_542411.2:p.Val1635SerfsTer30
NM_080681.2:c.4645del	NP_542412.2:p.Val1549SerfsTer30
XM_011514298.1:c.4057del	XP_011512600.1:p.Val1353SerfsTer30
XM_011514299.1:c.4189del	XP_011512601.1:p.Val1397SerfsTer30
XM_011514300.1:c.4009del	XP_011512602.1:p.Val1337SerfsTer30
XM_011514301.1:c.3946del	XP_011512603.1:p.Val1316SerfsTer30
XM_011514302.1:c.3790del	XP_011512604.1:p.Val1264SerfsTer30
XM_011514299.2:c.4189del	XP_011512601.1:p.Val1397SerfsTer30
XM_011514300.2:c.4009del	XP_011512602.1:p.Val1337SerfsTer30
XM_011514302.2:c.3790del	XP_011512604.1:p.Val1264SerfsTer30
XM_017010250.1:c.4903del	XP_016865739.1:p.Val1635SerfsTer30
XM_017010251.2:c.3721del	XP_016865740.1:p.Val1241SerfsTer30
NM_080680.3:c.4903del MANE Select	NP_542411.2:p.Val1635SerfsTer30
NM_080681.3:c.4645del	NP_542412.2:p.Val1549SerfsTer30
NM_080679.3:c.4582del	NP_542410.2:p.Val1528SerfsTer30