Canonical Allele Identifier: CA1883393223

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835473_134835474delinsGC , CM000671.2:g.134835473_134835474delinsGC	GRCh38
NC_000009.11:g.137727319_137727320delinsGC , CM000671.1:g.137727319_137727320delinsGC	GRCh37
NC_000009.10:g.136867140_136867141delinsGC	NCBI36
NG_008030.1:g.198668_198669delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+269_5370+270delinsGC	ENSP00000360885.4:n.5370+269_5370+270delinsGC
ENST00000371817.8:c.5370+269_5370+270delinsGC MANE Select	ENSP00000360882.3:n.5370+269_5370+270delinsGC
ENST00000371817.7:c.5370+269_5370+270delinsGC	ENSP00000360882.3:n.5370+269_5370+270delinsGC
ENST00000618395.4:c.5370+269_5370+270delinsGC	ENSP00000481360.1:n.5370+269_5370+270delinsGC
NM_000093.4:c.5370+269_5370+270delinsGC	NP_000084.3:n.5370+269_5370+270delinsGC
NM_001278074.1:c.5370+269_5370+270delinsGC	NP_001265003.1:n.5370+269_5370+270delinsGC
NR_103451.2:n.71-15265_71-15264delinsGC
NM_000093.5:c.5370+269_5370+270delinsGC MANE Select	NP_000084.3:n.5370+269_5370+270delinsGC