Canonical Allele Identifier: CA1883339098
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731540_134731541delinsGT , CM000671.2:g.134731540_134731541delinsGT GRCh38
NC_000009.11:g.137623386_137623387delinsGT , CM000671.1:g.137623386_137623387delinsGT GRCh37
NC_000009.10:g.136763207_136763208delinsGT NCBI36
NG_008030.1:g.94735_94736delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1209_1210delinsGT ENSP00000360885.4:p.Glu403=
ENST00000371817.8:c.1209_1210delinsGT MANE Select ENSP00000360882.3:p.Glu403=
ENST00000371817.7:c.1209_1210delinsGT ENSP00000360882.3:p.Glu403=
ENST00000618395.4:c.1209_1210delinsGT ENSP00000481360.1:p.Glu403=
NM_000093.4:c.1209_1210delinsGT NP_000084.3:p.Glu403=
NM_001278074.1:c.1209_1210delinsGT NP_001265003.1:p.Glu403=
XR_929712.1:n.1611_1612delinsGT
XR_929713.1:n.1611_1612delinsGT
XM_017014266.2:c.1209_1210delinsGT XP_016869755.1:p.Glu403=
XR_001746183.1:n.1607_1608delinsGT
NM_000093.5:c.1209_1210delinsGT MANE Select NP_000084.3:p.Glu403=
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