Canonical Allele Identifier: CA2538153322

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCTGATAATACGGCTGGCATGGCTGG , CM000664.2:g.189050252_189050253insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCTGATAATACGGCTGGCATGGCTGG	GRCh38
NC_000002.11:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCTGATAATACGGCTGGCATGGCTGG , CM000664.1:g.189914978_189914979insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCTGATAATACGGCTGGCATGGCTGG	GRCh37
NC_000002.10:g.189623223_189623224insGGAATCAGCGGAACCTTGTGAGCTCACTTTGCCTGATAATACGGCTGGCATGGCTGG	NCBI36
NG_011799.1:g.134627_134628insCCAGCCATGCCAGCCGTATTATCAGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.2:g.134627_134628insCCAGCCATGCCAGCCGTATTATCAGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC
NG_011799.3:g.180049_180050insCCAGCCATGCCAGCCGTATTATCAGGCAAAGTGAGCTCACAAGGTTCCGCTGATTCC

Transcript Alleles

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