Canonical Allele Identifier: CA860894067

Gene: COL5A1

Linked Data

• dbSNP Id: rs1243123872
• MyVariant Identifiers: chr9:g.137735300_137735303del (hg19) ; chr9:g.134843454_134843457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843458_134843461del , CM000671.2:g.134843458_134843461del	GRCh38
NC_000009.11:g.137735304_137735307del , CM000671.1:g.137735304_137735307del	GRCh37
NC_000009.10:g.136875125_136875128del	NCBI36
NG_008030.1:g.206653_206656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1155_*1158del	ENSP00000360885.4:n.*1155_*1158del
ENST00000371817.8:c.*1155_*1158del MANE Select	ENSP00000360882.3:n.*1155_*1158del
ENST00000371817.7:c.*1155_*1158del	ENSP00000360882.3:n.*1155_*1158del
ENST00000618395.4:c.*1155_*1158del	ENSP00000481360.1:n.*1155_*1158del
NM_000093.4:c.*1155_*1158del	NP_000084.3:n.*1155_*1158del
NM_001278074.1:c.*1155_*1158del	NP_001265003.1:n.*1155_*1158del
NR_103451.2:n.71-23248_71-23245del
NM_000093.5:c.*1155_*1158del MANE Select	NP_000084.3:n.*1155_*1158del