Canonical Allele Identifier: CA591111857

Gene: COL5A1

Linked Data

• dbSNP Id: rs1564484157
• gnomAD v2: 9-137714027-TGGGAGGGCA-T
• gnomAD v4: 9-134822181-TGGGAGGGCA-T
• MyVariant Identifiers: chr9:g.137714028_137714036del (hg19) ; chr9:g.134822182_134822190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822189_134822197del , CM000671.2:g.134822189_134822197del	GRCh38
NC_000009.11:g.137714035_137714043del , CM000671.1:g.137714035_137714043del	GRCh37
NC_000009.10:g.136853856_136853864del	NCBI36
NG_008030.1:g.185384_185392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+39_4608+47del	ENSP00000360885.4:n.4608+39_4608+47del
ENST00000371817.8:c.4608+39_4608+47del MANE Select	ENSP00000360882.3:n.4608+39_4608+47del
ENST00000371817.7:c.4608+39_4608+47del	ENSP00000360882.3:n.4608+39_4608+47del
ENST00000618395.4:c.4608+39_4608+47del	ENSP00000481360.1:n.4608+39_4608+47del
NM_000093.4:c.4608+39_4608+47del	NP_000084.3:n.4608+39_4608+47del
NM_001278074.1:c.4608+39_4608+47del	NP_001265003.1:n.4608+39_4608+47del
NR_103451.2:n.71-1981_71-1973del
XR_929712.1:n.5010+39_5010+47del
XR_929713.1:n.5010+39_5010+47del
XM_017014266.2:c.4608+39_4608+47del	XP_016869755.1:n.4608+39_4608+47del
XR_001746183.1:n.5006+39_5006+47del
NM_000093.5:c.4608+39_4608+47del MANE Select	NP_000084.3:n.4608+39_4608+47del