Canonical Allele Identifier: CA1129890572

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839812397
• gnomAD v3: 9-134835276-T-TAAAC
• gnomAD v4: 9-134835276-T-TAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835276_134835277insAAAC , CM000671.2:g.134835276_134835277insAAAC	GRCh38
NC_000009.11:g.137727122_137727123insAAAC , CM000671.1:g.137727122_137727123insAAAC	GRCh37
NC_000009.10:g.136866943_136866944insAAAC	NCBI36
NG_008030.1:g.198471_198472insAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+72_5370+73insAAAC	ENSP00000360885.4:n.5370+72_5370+73insAAAC
ENST00000371817.8:c.5370+72_5370+73insAAAC MANE Select	ENSP00000360882.3:n.5370+72_5370+73insAAAC
ENST00000371817.7:c.5370+72_5370+73insAAAC	ENSP00000360882.3:n.5370+72_5370+73insAAAC
ENST00000618395.4:c.5370+72_5370+73insAAAC	ENSP00000481360.1:n.5370+72_5370+73insAAAC
NM_000093.4:c.5370+72_5370+73insAAAC	NP_000084.3:n.5370+72_5370+73insAAAC
NM_001278074.1:c.5370+72_5370+73insAAAC	NP_001265003.1:n.5370+72_5370+73insAAAC
NR_103451.2:n.71-15068_71-15067insGTTT
NM_000093.5:c.5370+72_5370+73insAAAC MANE Select	NP_000084.3:n.5370+72_5370+73insAAAC