Canonical Allele Identifier: CA2739273022

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2839891
• ClinVar RCV Id: RCV003716070

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164905del , CM000668.2:g.33164905del	GRCh38
NC_000006.11:g.33132682del , CM000668.1:g.33132682del	GRCh37
NC_000006.10:g.33240660del	NCBI36
NG_011589.1:g.32565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.617del
ENST00000341947.7:c.4811del MANE Select	ENSP00000339915.2:p.Asn1604ThrfsTer10
ENST00000341947.6:c.4811del	ENSP00000339915.2:p.Asn1604ThrfsTer10
ENST00000361917.5:c.4490del	ENSP00000355123.1:p.Asn1497ThrfsTer10
ENST00000374708.8:c.4553del	ENSP00000363840.4:p.Asn1518ThrfsTer10
ENST00000477772.1:n.601del
NM_080679.2:c.4490del	NP_542410.2:p.Asn1497ThrfsTer10
NM_080680.2:c.4811del	NP_542411.2:p.Asn1604ThrfsTer10
NM_080681.2:c.4553del	NP_542412.2:p.Asn1518ThrfsTer10
XM_011514298.1:c.3965del	XP_011512600.1:p.Asn1322ThrfsTer10
XM_011514299.1:c.4097del	XP_011512601.1:p.Asn1366ThrfsTer10
XM_011514300.1:c.3917del	XP_011512602.1:p.Asn1306ThrfsTer10
XM_011514301.1:c.3854del	XP_011512603.1:p.Asn1285ThrfsTer10
XM_011514302.1:c.3698del	XP_011512604.1:p.Asn1233ThrfsTer10
XM_011514299.2:c.4097del	XP_011512601.1:p.Asn1366ThrfsTer10
XM_011514300.2:c.3917del	XP_011512602.1:p.Asn1306ThrfsTer10
XM_011514302.2:c.3698del	XP_011512604.1:p.Asn1233ThrfsTer10
XM_017010250.1:c.4811del	XP_016865739.1:p.Asn1604ThrfsTer10
XM_017010251.2:c.3629del	XP_016865740.1:p.Asn1210ThrfsTer10
NM_080680.3:c.4811del MANE Select	NP_542411.2:p.Asn1604ThrfsTer10
NM_080681.3:c.4553del	NP_542412.2:p.Asn1518ThrfsTer10
NM_080679.3:c.4490del	NP_542410.2:p.Asn1497ThrfsTer10