Canonical Allele Identifier: CA658655575

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171155del , CM000668.2:g.33171155del	GRCh38
NC_000006.11:g.33138932del , CM000668.1:g.33138932del	GRCh37
NC_000006.10:g.33246910del	NCBI36
NG_011589.1:g.26318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3329del MANE Select	ENSP00000339915.2:p.Pro1110LeufsTer?
ENST00000341947.6:c.3329del	ENSP00000339915.2:p.Pro1110LeufsTer?
ENST00000361917.5:c.3008del	ENSP00000355123.1:p.Pro1003LeufsTer?
ENST00000374708.8:c.3071del	ENSP00000363840.4:p.Pro1024LeufsTer?
ENST00000477772.1:n.273-5335del
NM_080679.2:c.3008del	NP_542410.2:p.Pro1003LeufsTer?
NM_080680.2:c.3329del	NP_542411.2:p.Pro1110LeufsTer?
NM_080681.2:c.3071del	NP_542412.2:p.Pro1024LeufsTer?
XM_011514298.1:c.2483del	XP_011512600.1:p.Pro828LeufsTer?
XM_011514299.1:c.2615del	XP_011512601.1:p.Pro872LeufsTer?
XM_011514300.1:c.2435del	XP_011512602.1:p.Pro812LeufsTer?
XM_011514301.1:c.2372del	XP_011512603.1:p.Pro791LeufsTer?
XM_011514302.1:c.2216del	XP_011512604.1:p.Pro739LeufsTer?
XM_011514299.2:c.2615del	XP_011512601.1:p.Pro872LeufsTer?
XM_011514300.2:c.2435del	XP_011512602.1:p.Pro812LeufsTer?
XM_011514302.2:c.2216del	XP_011512604.1:p.Pro739LeufsTer?
XM_017010250.1:c.3329del	XP_016865739.1:p.Pro1110LeufsTer?
XM_017010251.2:c.2147del	XP_016865740.1:p.Pro716LeufsTer?
NM_080680.3:c.3329del MANE Select	NP_542411.2:p.Pro1110LeufsTer?
NM_080681.3:c.3071del	NP_542412.2:p.Pro1024LeufsTer?
NM_080679.3:c.3008del	NP_542410.2:p.Pro1003LeufsTer?