Canonical Allele Identifier: CA1883306160

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690925_134690928delinsTCTC , CM000671.2:g.134690925_134690928delinsTCTC	GRCh38
NC_000009.11:g.137582771_137582774delinsTCTC , CM000671.1:g.137582771_137582774delinsTCTC	GRCh37
NC_000009.10:g.136722592_136722595delinsTCTC	NCBI36
NG_008030.1:g.54120_54123delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.123_126delinsTCTC	ENSP00000360885.4:p.Asp41=
ENST00000371817.8:c.123_126delinsTCTC MANE Select	ENSP00000360882.3:p.Asp41=
ENST00000371817.7:c.123_126delinsTCTC	ENSP00000360882.3:p.Asp41=
ENST00000464187.1:n.309_312delinsTCTC
ENST00000618395.4:c.123_126delinsTCTC	ENSP00000481360.1:p.Asp41=
NM_000093.4:c.123_126delinsTCTC	NP_000084.3:p.Asp41=
NM_001278074.1:c.123_126delinsTCTC	NP_001265003.1:p.Asp41=
XR_929712.1:n.525_528delinsTCTC
XR_929713.1:n.525_528delinsTCTC
XM_017014266.2:c.123_126delinsTCTC	XP_016869755.1:p.Asp41=
XR_001746183.1:n.521_524delinsTCTC
NM_000093.5:c.123_126delinsTCTC MANE Select	NP_000084.3:p.Asp41=