Canonical Allele Identifier: CA1883345762

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750762_134750764delinsCAG , CM000671.2:g.134750762_134750764delinsCAG	GRCh38
NC_000009.11:g.137642608_137642610delinsCAG , CM000671.1:g.137642608_137642610delinsCAG	GRCh37
NC_000009.10:g.136782429_136782431delinsCAG	NCBI36
NG_008030.1:g.113957_113959delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1570-28_1570-26delinsCAG	ENSP00000360885.4:n.1570-28_1570-26delinsCAG
ENST00000371817.8:c.1570-28_1570-26delinsCAG MANE Select	ENSP00000360882.3:n.1570-28_1570-26delinsCAG
ENST00000371817.7:c.1570-28_1570-26delinsCAG	ENSP00000360882.3:n.1570-28_1570-26delinsCAG
ENST00000618395.4:c.1570-28_1570-26delinsCAG	ENSP00000481360.1:n.1570-28_1570-26delinsCAG
NM_000093.4:c.1570-28_1570-26delinsCAG	NP_000084.3:n.1570-28_1570-26delinsCAG
NM_001278074.1:c.1570-28_1570-26delinsCAG	NP_001265003.1:n.1570-28_1570-26delinsCAG
XR_929712.1:n.1972-28_1972-26delinsCAG
XR_929713.1:n.1972-28_1972-26delinsCAG
XM_017014266.2:c.1570-28_1570-26delinsCAG	XP_016869755.1:n.1570-28_1570-26delinsCAG
XR_001746183.1:n.1968-28_1968-26delinsCAG
NM_000093.5:c.1570-28_1570-26delinsCAG MANE Select	NP_000084.3:n.1570-28_1570-26delinsCAG