Canonical Allele Identifier: CA1883367709

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134817648_134817706delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG , CM000671.2:g.134817648_134817706delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	GRCh38
NC_000009.11:g.137709494_137709552delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG , CM000671.1:g.137709494_137709552delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	GRCh37
NC_000009.10:g.136849315_136849373delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	NCBI36
NG_008030.1:g.180843_180901delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	ENSP00000360885.4:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTC...
ENST00000371817.8:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG MANE Select	ENSP00000360882.3:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTC...
ENST00000371817.7:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	ENSP00000360882.3:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTC...
ENST00000618395.4:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	ENSP00000481360.1:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTC...
NM_000093.4:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	NP_000084.3:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTG...
NM_001278074.1:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	NP_001265003.1:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCT...
XR_929712.1:n.4579-130_4579-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG
XR_929713.1:n.4579-130_4579-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG
XM_017014266.2:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG	XP_016869755.1:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCT...
XR_001746183.1:n.4575-130_4575-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG
NM_000093.5:c.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTGCCCCTGCAGGCCACACACACACACACCCTGAGCG MANE Select	NP_000084.3:n.4177-130_4177-72delinsACCTGCACCCGAGCTCGTCCCTCTG...