Canonical Allele Identifier: CA591117572

Gene: COL5A1

Linked Data

• dbSNP Id: rs886063685
• gnomAD v2: 9-137735016-A-ATTTTGG
• gnomAD v3: 9-134843170-A-ATTTTGG
• gnomAD v4: 9-134843170-A-ATTTTGG
• MyVariant Identifiers: chr9:g.137735016_137735017insTTTTGG (hg19) ; chr9:g.134843170_134843171insTTTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843171_134843172insTTTGGT , CM000671.2:g.134843171_134843172insTTTGGT	GRCh38
NC_000009.11:g.137735017_137735018insTTTGGT , CM000671.1:g.137735017_137735018insTTTGGT	GRCh37
NC_000009.10:g.136874838_136874839insTTTGGT	NCBI36
NG_008030.1:g.206366_206367insTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*868_*869insTTTGGT	ENSP00000360885.4:n.*868_*869insTTTGGT
ENST00000371817.8:c.*868_*869insTTTGGT MANE Select	ENSP00000360882.3:n.*868_*869insTTTGGT
ENST00000371817.7:c.*868_*869insTTTGGT	ENSP00000360882.3:n.*868_*869insTTTGGT
ENST00000618395.4:c.*868_*869insTTTGGT	ENSP00000481360.1:n.*868_*869insTTTGGT
NM_000093.4:c.*868_*869insTTTGGT	NP_000084.3:n.*868_*869insTTTGGT
NM_001278074.1:c.*868_*869insTTTGGT	NP_001265003.1:n.*868_*869insTTTGGT
NR_103451.2:n.71-22962_71-22961insCCAAAA
NM_000093.5:c.*868_*869insTTTGGT MANE Select	NP_000084.3:n.*868_*869insTTTGGT