Canonical Allele Identifier: CA1883393120

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835279_134835284delinsACCTGT , CM000671.2:g.134835279_134835284delinsACCTGT	GRCh38
NC_000009.11:g.137727125_137727130delinsACCTGT , CM000671.1:g.137727125_137727130delinsACCTGT	GRCh37
NC_000009.10:g.136866946_136866951delinsACCTGT	NCBI36
NG_008030.1:g.198474_198479delinsACCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+75_5370+80delinsACCTGT	ENSP00000360885.4:n.5370+75_5370+80delinsACCTGT
ENST00000371817.8:c.5370+75_5370+80delinsACCTGT MANE Select	ENSP00000360882.3:n.5370+75_5370+80delinsACCTGT
ENST00000371817.7:c.5370+75_5370+80delinsACCTGT	ENSP00000360882.3:n.5370+75_5370+80delinsACCTGT
ENST00000618395.4:c.5370+75_5370+80delinsACCTGT	ENSP00000481360.1:n.5370+75_5370+80delinsACCTGT
NM_000093.4:c.5370+75_5370+80delinsACCTGT	NP_000084.3:n.5370+75_5370+80delinsACCTGT
NM_001278074.1:c.5370+75_5370+80delinsACCTGT	NP_001265003.1:n.5370+75_5370+80delinsACCTGT
NR_103451.2:n.71-15075_71-15070delinsACAGGT
NM_000093.5:c.5370+75_5370+80delinsACCTGT MANE Select	NP_000084.3:n.5370+75_5370+80delinsACCTGT