Canonical Allele Identifier: CA2786219010
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843173_134843174insTGAG , CM000671.2:g.134843173_134843174insTGAG GRCh38
NC_000009.11:g.137735019_137735020insTGAG , CM000671.1:g.137735019_137735020insTGAG GRCh37
NC_000009.10:g.136874840_136874841insTGAG NCBI36
NG_008030.1:g.206368_206369insTGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*870_*871insTGAG ENSP00000360885.4:n.*870_*871insTGAG
ENST00000371817.8:c.*870_*871insTGAG MANE Select ENSP00000360882.3:n.*870_*871insTGAG
ENST00000371817.7:c.*870_*871insTGAG ENSP00000360882.3:n.*870_*871insTGAG
ENST00000618395.4:c.*870_*871insTGAG ENSP00000481360.1:n.*870_*871insTGAG
NM_000093.4:c.*870_*871insTGAG NP_000084.3:n.*870_*871insTGAG
NM_001278074.1:c.*870_*871insTGAG NP_001265003.1:n.*870_*871insTGAG
NR_103451.2:n.71-22963_71-22962insCACT
NM_000093.5:c.*870_*871insTGAG MANE Select NP_000084.3:n.*870_*871insTGAG
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