Canonical Allele Identifier: CA2678226372

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164394-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164397del , CM000668.2:g.33164397del	GRCh38
NC_000006.11:g.33132174del , CM000668.1:g.33132174del	GRCh37
NC_000006.10:g.33240152del	NCBI36
NG_011589.1:g.33074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.748del
ENST00000341947.7:c.4942del MANE Select	ENSP00000339915.2:p.His1648ThrfsTer17
ENST00000341947.6:c.4942del	ENSP00000339915.2:p.His1648ThrfsTer17
ENST00000361917.5:c.4621del	ENSP00000355123.1:p.His1541ThrfsTer17
ENST00000374708.8:c.4684del	ENSP00000363840.4:p.His1562ThrfsTer17
ENST00000477772.1:n.732del
NM_080679.2:c.4621del	NP_542410.2:p.His1541ThrfsTer17
NM_080680.2:c.4942del	NP_542411.2:p.His1648ThrfsTer17
NM_080681.2:c.4684del	NP_542412.2:p.His1562ThrfsTer17
XM_011514298.1:c.4096del	XP_011512600.1:p.His1366ThrfsTer17
XM_011514299.1:c.4228del	XP_011512601.1:p.His1410ThrfsTer17
XM_011514300.1:c.4048del	XP_011512602.1:p.His1350ThrfsTer17
XM_011514301.1:c.3985del	XP_011512603.1:p.His1329ThrfsTer17
XM_011514302.1:c.3829del	XP_011512604.1:p.His1277ThrfsTer17
XM_011514299.2:c.4228del	XP_011512601.1:p.His1410ThrfsTer17
XM_011514300.2:c.4048del	XP_011512602.1:p.His1350ThrfsTer17
XM_011514302.2:c.3829del	XP_011512604.1:p.His1277ThrfsTer17
XM_017010250.1:c.4942del	XP_016865739.1:p.His1648ThrfsTer17
XM_017010251.2:c.3760del	XP_016865740.1:p.His1254ThrfsTer17
NM_080680.3:c.4942del MANE Select	NP_542411.2:p.His1648ThrfsTer17
NM_080681.3:c.4684del	NP_542412.2:p.His1562ThrfsTer17
NM_080679.3:c.4621del	NP_542410.2:p.His1541ThrfsTer17