Canonical Allele Identifier: CA2573053136

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1320921
• ClinVar RCV Id: RCV001776900
• dbSNP Id: rs2132925907

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835131_134835139del , CM000671.2:g.134835131_134835139del	GRCh38
NC_000009.11:g.137726977_137726985del , CM000671.1:g.137726977_137726985del	GRCh37
NC_000009.10:g.136866798_136866806del	NCBI36
NG_008030.1:g.198326_198334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5297_5305del	ENSP00000360885.4:p.Phe1766_Gly1768del
ENST00000371817.8:c.5297_5305del MANE Select	ENSP00000360882.3:p.Phe1766_Gly1768del
ENST00000371817.7:c.5297_5305del	ENSP00000360882.3:p.Phe1766_Gly1768del
ENST00000371820.3:c.555_563del
ENST00000618395.4:c.5297_5305del	ENSP00000481360.1:p.Phe1766_Gly1768del
NM_000093.4:c.5297_5305del	NP_000084.3:p.Phe1766_Gly1768del
NM_001278074.1:c.5297_5305del	NP_001265003.1:p.Phe1766_Gly1768del
NR_103451.2:n.71-14927_71-14919del
NM_000093.5:c.5297_5305del MANE Select	NP_000084.3:p.Phe1766_Gly1768del