Canonical Allele Identifier: CA2692461734

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134835157-T-TCTTAGAGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835158_134835159insTTAGAGCCCC , CM000671.2:g.134835158_134835159insTTAGAGCCCC	GRCh38
NC_000009.11:g.137727004_137727005insTTAGAGCCCC , CM000671.1:g.137727004_137727005insTTAGAGCCCC	GRCh37
NC_000009.10:g.136866825_136866826insTTAGAGCCCC	NCBI36
NG_008030.1:g.198353_198354insTTAGAGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5324_5325insTTAGAGCCCC	ENSP00000360885.4:p.Tyr1776Ter
ENST00000371817.8:c.5324_5325insTTAGAGCCCC MANE Select	ENSP00000360882.3:p.Tyr1776Ter
ENST00000371817.7:c.5324_5325insTTAGAGCCCC	ENSP00000360882.3:p.Tyr1776Ter
ENST00000371820.3:c.582_583insTTAGAGCCCC
ENST00000618395.4:c.5324_5325insTTAGAGCCCC	ENSP00000481360.1:p.Tyr1776Ter
NM_000093.4:c.5324_5325insTTAGAGCCCC	NP_000084.3:p.Tyr1776Ter
NM_001278074.1:c.5324_5325insTTAGAGCCCC	NP_001265003.1:p.Tyr1776Ter
NR_103451.2:n.71-14949_71-14948insGGGCTCTAAG
NM_000093.5:c.5324_5325insTTAGAGCCCC MANE Select	NP_000084.3:p.Tyr1776Ter