Canonical Allele Identifier: CA566424989

Gene: COL11A2

Linked Data

• dbSNP Id: rs1320320867
• gnomAD v2: 6-33132642-TC-T
• gnomAD v4: 6-33164865-TC-T
• MyVariant Identifiers: chr6:g.33132643del (hg19) ; chr6:g.33164866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164868del , CM000668.2:g.33164868del	GRCh38
NC_000006.11:g.33132645del , CM000668.1:g.33132645del	GRCh37
NC_000006.10:g.33240623del	NCBI36
NG_011589.1:g.32603del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.655del
ENST00000341947.7:c.4849del MANE Select	ENSP00000339915.2:p.Asp1617MetfsTer?
ENST00000341947.6:c.4849del	ENSP00000339915.2:p.Asp1617MetfsTer?
ENST00000361917.5:c.4528del	ENSP00000355123.1:p.Asp1510MetfsTer?
ENST00000374708.8:c.4591del	ENSP00000363840.4:p.Asp1531MetfsTer?
ENST00000477772.1:n.639del
NM_080679.2:c.4528del	NP_542410.2:p.Asp1510MetfsTer?
NM_080680.2:c.4849del	NP_542411.2:p.Asp1617MetfsTer?
NM_080681.2:c.4591del	NP_542412.2:p.Asp1531MetfsTer?
XM_011514298.1:c.4003del	XP_011512600.1:p.Asp1335MetfsTer?
XM_011514299.1:c.4135del	XP_011512601.1:p.Asp1379MetfsTer?
XM_011514300.1:c.3955del	XP_011512602.1:p.Asp1319MetfsTer?
XM_011514301.1:c.3892del	XP_011512603.1:p.Asp1298MetfsTer?
XM_011514302.1:c.3736del	XP_011512604.1:p.Asp1246MetfsTer?
XM_011514299.2:c.4135del	XP_011512601.1:p.Asp1379MetfsTer?
XM_011514300.2:c.3955del	XP_011512602.1:p.Asp1319MetfsTer?
XM_011514302.2:c.3736del	XP_011512604.1:p.Asp1246MetfsTer?
XM_017010250.1:c.4849del	XP_016865739.1:p.Asp1617MetfsTer?
XM_017010251.2:c.3667del	XP_016865740.1:p.Asp1223MetfsTer?
NM_080680.3:c.4849del MANE Select	NP_542411.2:p.Asp1617MetfsTer?
NM_080681.3:c.4591del	NP_542412.2:p.Asp1531MetfsTer?
NM_080679.3:c.4528del	NP_542410.2:p.Asp1510MetfsTer?