Canonical Allele Identifier: CA1883373185

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822168_134822169delinsGC , CM000671.2:g.134822168_134822169delinsGC	GRCh38
NC_000009.11:g.137714014_137714015delinsGC , CM000671.1:g.137714014_137714015delinsGC	GRCh37
NC_000009.10:g.136853835_136853836delinsGC	NCBI36
NG_008030.1:g.185363_185364delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+18_4608+19delinsGC	ENSP00000360885.4:n.4608+18_4608+19delinsGC
ENST00000371817.8:c.4608+18_4608+19delinsGC MANE Select	ENSP00000360882.3:n.4608+18_4608+19delinsGC
ENST00000371817.7:c.4608+18_4608+19delinsGC	ENSP00000360882.3:n.4608+18_4608+19delinsGC
ENST00000618395.4:c.4608+18_4608+19delinsGC	ENSP00000481360.1:n.4608+18_4608+19delinsGC
NM_000093.4:c.4608+18_4608+19delinsGC	NP_000084.3:n.4608+18_4608+19delinsGC
NM_001278074.1:c.4608+18_4608+19delinsGC	NP_001265003.1:n.4608+18_4608+19delinsGC
NR_103451.2:n.71-1960_71-1959delinsGC
XR_929712.1:n.5010+18_5010+19delinsGC
XR_929713.1:n.5010+18_5010+19delinsGC
XM_017014266.2:c.4608+18_4608+19delinsGC	XP_016869755.1:n.4608+18_4608+19delinsGC
XR_001746183.1:n.5006+18_5006+19delinsGC
NM_000093.5:c.4608+18_4608+19delinsGC MANE Select	NP_000084.3:n.4608+18_4608+19delinsGC