Canonical Allele Identifier: CA2678226393

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164944-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164948del , CM000668.2:g.33164948del	GRCh38
NC_000006.11:g.33132725del , CM000668.1:g.33132725del	GRCh37
NC_000006.10:g.33240703del	NCBI36
NG_011589.1:g.32524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.576del
ENST00000341947.7:c.4770del MANE Select	ENSP00000339915.2:p.Asn1591ThrfsTer23
ENST00000341947.6:c.4770del	ENSP00000339915.2:p.Asn1591ThrfsTer23
ENST00000361917.5:c.4449del	ENSP00000355123.1:p.Asn1484ThrfsTer23
ENST00000374708.8:c.4512del	ENSP00000363840.4:p.Asn1505ThrfsTer23
ENST00000477772.1:n.560del
NM_080679.2:c.4449del	NP_542410.2:p.Asn1484ThrfsTer23
NM_080680.2:c.4770del	NP_542411.2:p.Asn1591ThrfsTer23
NM_080681.2:c.4512del	NP_542412.2:p.Asn1505ThrfsTer23
XM_011514298.1:c.3924del	XP_011512600.1:p.Asn1309ThrfsTer23
XM_011514299.1:c.4056del	XP_011512601.1:p.Asn1353ThrfsTer23
XM_011514300.1:c.3876del	XP_011512602.1:p.Asn1293ThrfsTer23
XM_011514301.1:c.3813del	XP_011512603.1:p.Asn1272ThrfsTer23
XM_011514302.1:c.3657del	XP_011512604.1:p.Asn1220ThrfsTer23
XM_011514299.2:c.4056del	XP_011512601.1:p.Asn1353ThrfsTer23
XM_011514300.2:c.3876del	XP_011512602.1:p.Asn1293ThrfsTer23
XM_011514302.2:c.3657del	XP_011512604.1:p.Asn1220ThrfsTer23
XM_017010250.1:c.4770del	XP_016865739.1:p.Asn1591ThrfsTer23
XM_017010251.2:c.3588del	XP_016865740.1:p.Asn1197ThrfsTer23
NM_080680.3:c.4770del MANE Select	NP_542411.2:p.Asn1591ThrfsTer23
NM_080681.3:c.4512del	NP_542412.2:p.Asn1505ThrfsTer23
NM_080679.3:c.4449del	NP_542410.2:p.Asn1484ThrfsTer23