Canonical Allele Identifier: CA2678230883

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33171159-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171161del , CM000668.2:g.33171161del	GRCh38
NC_000006.11:g.33138938del , CM000668.1:g.33138938del	GRCh37
NC_000006.10:g.33246916del	NCBI36
NG_011589.1:g.26309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3320del MANE Select	ENSP00000339915.2:p.Pro1107LeufsTer?
ENST00000341947.6:c.3320del	ENSP00000339915.2:p.Pro1107LeufsTer?
ENST00000361917.5:c.2999del	ENSP00000355123.1:p.Pro1000LeufsTer?
ENST00000374708.8:c.3062del	ENSP00000363840.4:p.Pro1021LeufsTer?
ENST00000477772.1:n.273-5344del
NM_080679.2:c.2999del	NP_542410.2:p.Pro1000LeufsTer?
NM_080680.2:c.3320del	NP_542411.2:p.Pro1107LeufsTer?
NM_080681.2:c.3062del	NP_542412.2:p.Pro1021LeufsTer?
XM_011514298.1:c.2474del	XP_011512600.1:p.Pro825LeufsTer?
XM_011514299.1:c.2606del	XP_011512601.1:p.Pro869LeufsTer?
XM_011514300.1:c.2426del	XP_011512602.1:p.Pro809LeufsTer?
XM_011514301.1:c.2363del	XP_011512603.1:p.Pro788LeufsTer?
XM_011514302.1:c.2207del	XP_011512604.1:p.Pro736LeufsTer?
XM_011514299.2:c.2606del	XP_011512601.1:p.Pro869LeufsTer?
XM_011514300.2:c.2426del	XP_011512602.1:p.Pro809LeufsTer?
XM_011514302.2:c.2207del	XP_011512604.1:p.Pro736LeufsTer?
XM_017010250.1:c.3320del	XP_016865739.1:p.Pro1107LeufsTer?
XM_017010251.2:c.2138del	XP_016865740.1:p.Pro713LeufsTer?
NM_080680.3:c.3320del MANE Select	NP_542411.2:p.Pro1107LeufsTer?
NM_080681.3:c.3062del	NP_542412.2:p.Pro1021LeufsTer?
NM_080679.3:c.2999del	NP_542410.2:p.Pro1000LeufsTer?