Canonical Allele Identifier: CA1883393213

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839819600

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835458_134835488del , CM000671.2:g.134835458_134835488del	GRCh38
NC_000009.11:g.137727304_137727334del , CM000671.1:g.137727304_137727334del	GRCh37
NC_000009.10:g.136867125_136867155del	NCBI36
NG_008030.1:g.198653_198683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+254_5370+284del	ENSP00000360885.4:n.5370+254_5370+284del
ENST00000371817.8:c.5370+254_5370+284del MANE Select	ENSP00000360882.3:n.5370+254_5370+284del
ENST00000371817.7:c.5370+254_5370+284del	ENSP00000360882.3:n.5370+254_5370+284del
ENST00000618395.4:c.5370+254_5370+284del	ENSP00000481360.1:n.5370+254_5370+284del
NM_000093.4:c.5370+254_5370+284del	NP_000084.3:n.5370+254_5370+284del
NM_001278074.1:c.5370+254_5370+284del	NP_001265003.1:n.5370+254_5370+284del
NR_103451.2:n.71-15278_71-15248del
NM_000093.5:c.5370+254_5370+284del MANE Select	NP_000084.3:n.5370+254_5370+284del