Canonical Allele Identifier: CA2739273023

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2874000
• ClinVar RCV Id: RCV003712220

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164928del , CM000668.2:g.33164928del	GRCh38
NC_000006.11:g.33132705del , CM000668.1:g.33132705del	GRCh37
NC_000006.10:g.33240683del	NCBI36
NG_011589.1:g.32543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.595del
ENST00000341947.7:c.4789del MANE Select	ENSP00000339915.2:p.Asp1597MetfsTer17
ENST00000341947.6:c.4789del	ENSP00000339915.2:p.Asp1597MetfsTer17
ENST00000361917.5:c.4468del	ENSP00000355123.1:p.Asp1490MetfsTer17
ENST00000374708.8:c.4531del	ENSP00000363840.4:p.Asp1511MetfsTer17
ENST00000477772.1:n.579del
NM_080679.2:c.4468del	NP_542410.2:p.Asp1490MetfsTer17
NM_080680.2:c.4789del	NP_542411.2:p.Asp1597MetfsTer17
NM_080681.2:c.4531del	NP_542412.2:p.Asp1511MetfsTer17
XM_011514298.1:c.3943del	XP_011512600.1:p.Asp1315MetfsTer17
XM_011514299.1:c.4075del	XP_011512601.1:p.Asp1359MetfsTer17
XM_011514300.1:c.3895del	XP_011512602.1:p.Asp1299MetfsTer17
XM_011514301.1:c.3832del	XP_011512603.1:p.Asp1278MetfsTer17
XM_011514302.1:c.3676del	XP_011512604.1:p.Asp1226MetfsTer17
XM_011514299.2:c.4075del	XP_011512601.1:p.Asp1359MetfsTer17
XM_011514300.2:c.3895del	XP_011512602.1:p.Asp1299MetfsTer17
XM_011514302.2:c.3676del	XP_011512604.1:p.Asp1226MetfsTer17
XM_017010250.1:c.4789del	XP_016865739.1:p.Asp1597MetfsTer17
XM_017010251.2:c.3607del	XP_016865740.1:p.Asp1203MetfsTer17
NM_080680.3:c.4789del MANE Select	NP_542411.2:p.Asp1597MetfsTer17
NM_080681.3:c.4531del	NP_542412.2:p.Asp1511MetfsTer17
NM_080679.3:c.4468del	NP_542410.2:p.Asp1490MetfsTer17