Canonical Allele Identifier: CA2678226419

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164952-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164955del , CM000668.2:g.33164955del	GRCh38
NC_000006.11:g.33132732del , CM000668.1:g.33132732del	GRCh37
NC_000006.10:g.33240710del	NCBI36
NG_011589.1:g.32516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.568del
ENST00000341947.7:c.4762del MANE Select	ENSP00000339915.2:p.Val1588SerfsTer26
ENST00000341947.6:c.4762del	ENSP00000339915.2:p.Val1588SerfsTer26
ENST00000361917.5:c.4441del	ENSP00000355123.1:p.Val1481SerfsTer26
ENST00000374708.8:c.4504del	ENSP00000363840.4:p.Val1502SerfsTer26
ENST00000477772.1:n.552del
NM_080679.2:c.4441del	NP_542410.2:p.Val1481SerfsTer26
NM_080680.2:c.4762del	NP_542411.2:p.Val1588SerfsTer26
NM_080681.2:c.4504del	NP_542412.2:p.Val1502SerfsTer26
XM_011514298.1:c.3916del	XP_011512600.1:p.Val1306SerfsTer26
XM_011514299.1:c.4048del	XP_011512601.1:p.Val1350SerfsTer26
XM_011514300.1:c.3868del	XP_011512602.1:p.Val1290SerfsTer26
XM_011514301.1:c.3805del	XP_011512603.1:p.Val1269SerfsTer26
XM_011514302.1:c.3649del	XP_011512604.1:p.Val1217SerfsTer26
XM_011514299.2:c.4048del	XP_011512601.1:p.Val1350SerfsTer26
XM_011514300.2:c.3868del	XP_011512602.1:p.Val1290SerfsTer26
XM_011514302.2:c.3649del	XP_011512604.1:p.Val1217SerfsTer26
XM_017010250.1:c.4762del	XP_016865739.1:p.Val1588SerfsTer26
XM_017010251.2:c.3580del	XP_016865740.1:p.Val1194SerfsTer26
NM_080680.3:c.4762del MANE Select	NP_542411.2:p.Val1588SerfsTer26
NM_080681.3:c.4504del	NP_542412.2:p.Val1502SerfsTer26
NM_080679.3:c.4441del	NP_542410.2:p.Val1481SerfsTer26