Canonical Allele Identifier: CA2578581069

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164444-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164448del , CM000668.2:g.33164448del	GRCh38
NC_000006.11:g.33132225del , CM000668.1:g.33132225del	GRCh37
NC_000006.10:g.33240203del	NCBI36
NG_011589.1:g.33024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.698del
ENST00000341947.7:c.4892del MANE Select	ENSP00000339915.2:p.Pro1631GlnfsTer?
ENST00000341947.6:c.4892del	ENSP00000339915.2:p.Pro1631GlnfsTer?
ENST00000361917.5:c.4571del	ENSP00000355123.1:p.Pro1524GlnfsTer?
ENST00000374708.8:c.4634del	ENSP00000363840.4:p.Pro1545GlnfsTer?
ENST00000477772.1:n.682del
NM_080679.2:c.4571del	NP_542410.2:p.Pro1524GlnfsTer?
NM_080680.2:c.4892del	NP_542411.2:p.Pro1631GlnfsTer?
NM_080681.2:c.4634del	NP_542412.2:p.Pro1545GlnfsTer?
XM_011514298.1:c.4046del	XP_011512600.1:p.Pro1349GlnfsTer?
XM_011514299.1:c.4178del	XP_011512601.1:p.Pro1393GlnfsTer?
XM_011514300.1:c.3998del	XP_011512602.1:p.Pro1333GlnfsTer?
XM_011514301.1:c.3935del	XP_011512603.1:p.Pro1312GlnfsTer?
XM_011514302.1:c.3779del	XP_011512604.1:p.Pro1260GlnfsTer?
XM_011514299.2:c.4178del	XP_011512601.1:p.Pro1393GlnfsTer?
XM_011514300.2:c.3998del	XP_011512602.1:p.Pro1333GlnfsTer?
XM_011514302.2:c.3779del	XP_011512604.1:p.Pro1260GlnfsTer?
XM_017010250.1:c.4892del	XP_016865739.1:p.Pro1631GlnfsTer?
XM_017010251.2:c.3710del	XP_016865740.1:p.Pro1237GlnfsTer?
NM_080680.3:c.4892del MANE Select	NP_542411.2:p.Pro1631GlnfsTer?
NM_080681.3:c.4634del	NP_542412.2:p.Pro1545GlnfsTer?
NM_080679.3:c.4571del	NP_542410.2:p.Pro1524GlnfsTer?