Canonical Allele Identifier: CA1883373299

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822221_134822227delinsGTGTGGA , CM000671.2:g.134822221_134822227delinsGTGTGGA	GRCh38
NC_000009.11:g.137714067_137714073delinsGTGTGGA , CM000671.1:g.137714067_137714073delinsGTGTGGA	GRCh37
NC_000009.10:g.136853888_136853894delinsGTGTGGA	NCBI36
NG_008030.1:g.185416_185422delinsGTGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+71_4608+77delinsGTGTGGA	ENSP00000360885.4:n.4608+71_4608+77delinsGTGTGGA
ENST00000371817.8:c.4608+71_4608+77delinsGTGTGGA MANE Select	ENSP00000360882.3:n.4608+71_4608+77delinsGTGTGGA
ENST00000371817.7:c.4608+71_4608+77delinsGTGTGGA	ENSP00000360882.3:n.4608+71_4608+77delinsGTGTGGA
ENST00000618395.4:c.4608+71_4608+77delinsGTGTGGA	ENSP00000481360.1:n.4608+71_4608+77delinsGTGTGGA
NM_000093.4:c.4608+71_4608+77delinsGTGTGGA	NP_000084.3:n.4608+71_4608+77delinsGTGTGGA
NM_001278074.1:c.4608+71_4608+77delinsGTGTGGA	NP_001265003.1:n.4608+71_4608+77delinsGTGTGGA
NR_103451.2:n.71-2018_71-2012delinsTCCACAC
XR_929712.1:n.5010+71_5010+77delinsGTGTGGA
XR_929713.1:n.5010+71_5010+77delinsGTGTGGA
XM_017014266.2:c.4608+71_4608+77delinsGTGTGGA	XP_016869755.1:n.4608+71_4608+77delinsGTGTGGA
XR_001746183.1:n.5006+71_5006+77delinsGTGTGGA
NM_000093.5:c.4608+71_4608+77delinsGTGTGGA MANE Select	NP_000084.3:n.4608+71_4608+77delinsGTGTGGA