Canonical Allele Identifier: CA2551374273

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCCGATAATACGGCTGGCATGGCAGGCA , CM000664.2:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCCGATAATACGGCTGGCATGGCAGGCA	GRCh38
NC_000002.11:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCCGATAATACGGCTGGCATGGCAGGCA , CM000664.1:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCCGATAATACGGCTGGCATGGCAGGCA	GRCh37
NC_000002.10:g.189623223_189623224insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCCGATAATACGGCTGGCATGGCAGGCA	NCBI36
NG_011799.1:g.134627_134628insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.2:g.134627_134628insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.3:g.180049_180050insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC MANE Select	ENSP00000364000.3:n.3039+316_3039+317insTGCCTGCCATGCCAGCCGTAT...
ENST00000374866.7:c.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	ENSP00000364000.3:n.3039+316_3039+317insTGCCTGCCATGCCAGCCGTAT...
ENST00000618828.1:c.1878+316_1878+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	ENSP00000482184.1:n.1878+316_1878+317insTGCCTGCCATGCCAGCCGTAT...
NM_000393.3:c.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	NP_000384.2:n.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGG...
XM_011510573.1:c.2901+316_2901+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	XP_011508875.1:n.2901+316_2901+317insTGCCTGCCATGCCAGCCGTATTAT...
NM_000393.4:c.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	NP_000384.2:n.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGG...
XM_011510573.3:c.2901+316_2901+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC	XP_011508875.1:n.2901+316_2901+317insTGCCTGCCATGCCAGCCGTATTAT...
NM_000393.5:c.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC MANE Select	NP_000384.2:n.3039+316_3039+317insTGCCTGCCATGCCAGCCGTATTATCGG...