Canonical Allele Identifier: CA2678226370

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164380-AGGAGACGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164381_33164388del , CM000668.2:g.33164381_33164388del	GRCh38
NC_000006.11:g.33132158_33132165del , CM000668.1:g.33132158_33132165del	GRCh37
NC_000006.10:g.33240136_33240143del	NCBI36
NG_011589.1:g.33081_33088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.755_762del
ENST00000341947.7:c.4949_4956del MANE Select	ENSP00000339915.2:p.Asp1650ValfsTer9
ENST00000341947.6:c.4949_4956del	ENSP00000339915.2:p.Asp1650ValfsTer9
ENST00000361917.5:c.4628_4635del	ENSP00000355123.1:p.Asp1543ValfsTer9
ENST00000374708.8:c.4691_4698del	ENSP00000363840.4:p.Asp1564ValfsTer9
ENST00000477772.1:n.739_746del
NM_080679.2:c.4628_4635del	NP_542410.2:p.Asp1543ValfsTer9
NM_080680.2:c.4949_4956del	NP_542411.2:p.Asp1650ValfsTer9
NM_080681.2:c.4691_4698del	NP_542412.2:p.Asp1564ValfsTer9
XM_011514298.1:c.4103_4110del	XP_011512600.1:p.Asp1368ValfsTer9
XM_011514299.1:c.4235_4242del	XP_011512601.1:p.Asp1412ValfsTer9
XM_011514300.1:c.4055_4062del	XP_011512602.1:p.Asp1352ValfsTer9
XM_011514301.1:c.3992_3999del	XP_011512603.1:p.Asp1331ValfsTer9
XM_011514302.1:c.3836_3843del	XP_011512604.1:p.Asp1279ValfsTer9
XM_011514299.2:c.4235_4242del	XP_011512601.1:p.Asp1412ValfsTer9
XM_011514300.2:c.4055_4062del	XP_011512602.1:p.Asp1352ValfsTer9
XM_011514302.2:c.3836_3843del	XP_011512604.1:p.Asp1279ValfsTer9
XM_017010250.1:c.4949_4956del	XP_016865739.1:p.Asp1650ValfsTer9
XM_017010251.2:c.3767_3774del	XP_016865740.1:p.Asp1256ValfsTer9
NM_080680.3:c.4949_4956del MANE Select	NP_542411.2:p.Asp1650ValfsTer9
NM_080681.3:c.4691_4698del	NP_542412.2:p.Asp1564ValfsTer9
NM_080679.3:c.4628_4635del	NP_542410.2:p.Asp1543ValfsTer9