Canonical Allele Identifier: CA1883396740

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842317_134842318delinsCG , CM000671.2:g.134842317_134842318delinsCG	GRCh38
NC_000009.11:g.137734163_137734164delinsCG , CM000671.1:g.137734163_137734164delinsCG	GRCh37
NC_000009.10:g.136873984_136873985delinsCG	NCBI36
NG_008030.1:g.205512_205513delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*14_*15delinsCG	ENSP00000360885.4:n.*14_*15delinsCG
ENST00000371817.8:c.*14_*15delinsCG MANE Select	ENSP00000360882.3:n.*14_*15delinsCG
ENST00000371817.7:c.*14_*15delinsCG	ENSP00000360882.3:n.*14_*15delinsCG
ENST00000618395.4:c.*14_*15delinsCG	ENSP00000481360.1:n.*14_*15delinsCG
NM_000093.4:c.*14_*15delinsCG	NP_000084.3:n.*14_*15delinsCG
NM_001278074.1:c.*14_*15delinsCG	NP_001265003.1:n.*14_*15delinsCG
NR_103451.2:n.71-22109_71-22108delinsCG
NM_000093.5:c.*14_*15delinsCG MANE Select	NP_000084.3:n.*14_*15delinsCG