Canonical Allele Identifier: CA653723346
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843036_134843037insA , CM000671.2:g.134843036_134843037insA GRCh38
NC_000009.11:g.137734882_137734883insA , CM000671.1:g.137734882_137734883insA GRCh37
NC_000009.10:g.136874703_136874704insA NCBI36
NG_008030.1:g.206231_206232insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*733_*734insA ENSP00000360885.4:n.*733_*734insA
ENST00000371817.8:c.*733_*734insA MANE Select ENSP00000360882.3:n.*733_*734insA
ENST00000371817.7:c.*733_*734insA ENSP00000360882.3:n.*733_*734insA
ENST00000618395.4:c.*733_*734insA ENSP00000481360.1:n.*733_*734insA
NM_000093.4:c.*733_*734insA NP_000084.3:n.*733_*734insA
NM_001278074.1:c.*733_*734insA NP_001265003.1:n.*733_*734insA
NR_103451.2:n.71-22828_71-22827insT
NM_000093.5:c.*733_*734insA MANE Select NP_000084.3:n.*733_*734insA