Canonical Allele Identifier: CA1883339189

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731575_134731587delinsACTACTACGACCC , CM000671.2:g.134731575_134731587delinsACTACTACGACCC	GRCh38
NC_000009.11:g.137623421_137623433delinsACTACTACGACCC , CM000671.1:g.137623421_137623433delinsACTACTACGACCC	GRCh37
NC_000009.10:g.136763242_136763254delinsACTACTACGACCC	NCBI36
NG_008030.1:g.94770_94782delinsACTACTACGACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1244_1256delinsACTACTACGACCC	ENSP00000360885.4:p.Asn415=
ENST00000371817.8:c.1244_1256delinsACTACTACGACCC MANE Select	ENSP00000360882.3:p.Asn415=
ENST00000371817.7:c.1244_1256delinsACTACTACGACCC	ENSP00000360882.3:p.Asn415=
ENST00000618395.4:c.1244_1256delinsACTACTACGACCC	ENSP00000481360.1:p.Asn415=
NM_000093.4:c.1244_1256delinsACTACTACGACCC	NP_000084.3:p.Asn415=
NM_001278074.1:c.1244_1256delinsACTACTACGACCC	NP_001265003.1:p.Asn415=
XR_929712.1:n.1646_1658delinsACTACTACGACCC
XR_929713.1:n.1646_1658delinsACTACTACGACCC
XM_017014266.2:c.1244_1256delinsACTACTACGACCC	XP_016869755.1:p.Asn415=
XR_001746183.1:n.1642_1654delinsACTACTACGACCC
NM_000093.5:c.1244_1256delinsACTACTACGACCC MANE Select	NP_000084.3:p.Asn415=