Canonical Allele Identifier: CA1883396746

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842319_134842321delinsGGC , CM000671.2:g.134842319_134842321delinsGGC	GRCh38
NC_000009.11:g.137734165_137734167delinsGGC , CM000671.1:g.137734165_137734167delinsGGC	GRCh37
NC_000009.10:g.136873986_136873988delinsGGC	NCBI36
NG_008030.1:g.205514_205516delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*16_*18delinsGGC	ENSP00000360885.4:n.*16_*18delinsGGC
ENST00000371817.8:c.*16_*18delinsGGC MANE Select	ENSP00000360882.3:n.*16_*18delinsGGC
ENST00000371817.7:c.*16_*18delinsGGC	ENSP00000360882.3:n.*16_*18delinsGGC
ENST00000618395.4:c.*16_*18delinsGGC	ENSP00000481360.1:n.*16_*18delinsGGC
NM_000093.4:c.*16_*18delinsGGC	NP_000084.3:n.*16_*18delinsGGC
NM_001278074.1:c.*16_*18delinsGGC	NP_001265003.1:n.*16_*18delinsGGC
NR_103451.2:n.71-22112_71-22110delinsGCC
NM_000093.5:c.*16_*18delinsGGC MANE Select	NP_000084.3:n.*16_*18delinsGGC