Canonical Allele Identifier: CA2578581070

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164461_33164466del , CM000668.2:g.33164461_33164466del	GRCh38
NC_000006.11:g.33132238_33132243del , CM000668.1:g.33132238_33132243del	GRCh37
NC_000006.10:g.33240216_33240221del	NCBI36
NG_011589.1:g.33005_33010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.679_684del
ENST00000341947.7:c.4873_4878del MANE Select	ENSP00000339915.2:p.Val1625_Asp1626del
ENST00000341947.6:c.4873_4878del	ENSP00000339915.2:p.Val1625_Asp1626del
ENST00000361917.5:c.4552_4557del	ENSP00000355123.1:p.Val1518_Asp1519del
ENST00000374708.8:c.4615_4620del	ENSP00000363840.4:p.Val1539_Asp1540del
ENST00000477772.1:n.663_668del
NM_080679.2:c.4552_4557del	NP_542410.2:p.Val1518_Asp1519del
NM_080680.2:c.4873_4878del	NP_542411.2:p.Val1625_Asp1626del
NM_080681.2:c.4615_4620del	NP_542412.2:p.Val1539_Asp1540del
XM_011514298.1:c.4027_4032del	XP_011512600.1:p.Val1343_Asp1344del
XM_011514299.1:c.4159_4164del	XP_011512601.1:p.Val1387_Asp1388del
XM_011514300.1:c.3979_3984del	XP_011512602.1:p.Val1327_Asp1328del
XM_011514301.1:c.3916_3921del	XP_011512603.1:p.Val1306_Asp1307del
XM_011514302.1:c.3760_3765del	XP_011512604.1:p.Val1254_Asp1255del
XM_011514299.2:c.4159_4164del	XP_011512601.1:p.Val1387_Asp1388del
XM_011514300.2:c.3979_3984del	XP_011512602.1:p.Val1327_Asp1328del
XM_011514302.2:c.3760_3765del	XP_011512604.1:p.Val1254_Asp1255del
XM_017010250.1:c.4873_4878del	XP_016865739.1:p.Val1625_Asp1626del
XM_017010251.2:c.3691_3696del	XP_016865740.1:p.Val1231_Asp1232del
NM_080680.3:c.4873_4878del MANE Select	NP_542411.2:p.Val1625_Asp1626del
NM_080681.3:c.4615_4620del	NP_542412.2:p.Val1539_Asp1540del
NM_080679.3:c.4552_4557del	NP_542410.2:p.Val1518_Asp1519del