Canonical Allele Identifier: CA2547006176

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTACCCGATAATACGGCTGGCATGGCAGG , CM000664.2:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTACCCGATAATACGGCTGGCATGGCAGG	GRCh38
NC_000002.11:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTACCCGATAATACGGCTGGCATGGCAGG , CM000664.1:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTACCCGATAATACGGCTGGCATGGCAGG	GRCh37
NC_000002.10:g.189623223_189623224insGGAATCAGCGGAACCTTGTGAGCTCACTTTACCCGATAATACGGCTGGCATGGCAGG	NCBI36
NG_011799.1:g.134627_134628insCCTGCCATGCCAGCCGTATTATCGGGTAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.2:g.134627_134628insCCTGCCATGCCAGCCGTATTATCGGGTAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.3:g.180049_180050insCCTGCCATGCCAGCCGTATTATCGGGTAAAGTGAGCTCACAAGGTTCCGCTGATTCC

Transcript Alleles

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