Canonical Allele Identifier: CA1883397718

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843427_134843428delinsGA , CM000671.2:g.134843427_134843428delinsGA	GRCh38
NC_000009.11:g.137735273_137735274delinsGA , CM000671.1:g.137735273_137735274delinsGA	GRCh37
NC_000009.10:g.136875094_136875095delinsGA	NCBI36
NG_008030.1:g.206622_206623delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1124_*1125delinsGA	ENSP00000360885.4:n.*1124_*1125delinsGA
ENST00000371817.8:c.*1124_*1125delinsGA MANE Select	ENSP00000360882.3:n.*1124_*1125delinsGA
ENST00000371817.7:c.*1124_*1125delinsGA	ENSP00000360882.3:n.*1124_*1125delinsGA
ENST00000618395.4:c.*1124_*1125delinsGA	ENSP00000481360.1:n.*1124_*1125delinsGA
NM_000093.4:c.*1124_*1125delinsGA	NP_000084.3:n.*1124_*1125delinsGA
NM_001278074.1:c.*1124_*1125delinsGA	NP_001265003.1:n.*1124_*1125delinsGA
NR_103451.2:n.71-23219_71-23218delinsTC
NM_000093.5:c.*1124_*1125delinsGA MANE Select	NP_000084.3:n.*1124_*1125delinsGA