Canonical Allele Identifier: CA591111854

Gene: COL5A1

Linked Data

• dbSNP Id: rs1222425079
• gnomAD v2: 9-137714026-CTGGGAGGG-C
• gnomAD v3: 9-134822180-CTGGGAGGG-C
• gnomAD v4: 9-134822180-CTGGGAGGG-C
• MyVariant Identifiers: chr9:g.137714027_137714034del (hg19) ; chr9:g.134822181_134822188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822181_134822188del , CM000671.2:g.134822181_134822188del	GRCh38
NC_000009.11:g.137714027_137714034del , CM000671.1:g.137714027_137714034del	GRCh37
NC_000009.10:g.136853848_136853855del	NCBI36
NG_008030.1:g.185376_185383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+31_4608+38del	ENSP00000360885.4:n.4608+31_4608+38del
ENST00000371817.8:c.4608+31_4608+38del MANE Select	ENSP00000360882.3:n.4608+31_4608+38del
ENST00000371817.7:c.4608+31_4608+38del	ENSP00000360882.3:n.4608+31_4608+38del
ENST00000618395.4:c.4608+31_4608+38del	ENSP00000481360.1:n.4608+31_4608+38del
NM_000093.4:c.4608+31_4608+38del	NP_000084.3:n.4608+31_4608+38del
NM_001278074.1:c.4608+31_4608+38del	NP_001265003.1:n.4608+31_4608+38del
NR_103451.2:n.71-1979_71-1972del
XR_929712.1:n.5010+31_5010+38del
XR_929713.1:n.5010+31_5010+38del
XM_017014266.2:c.4608+31_4608+38del	XP_016869755.1:n.4608+31_4608+38del
XR_001746183.1:n.5006+31_5006+38del
NM_000093.5:c.4608+31_4608+38del MANE Select	NP_000084.3:n.4608+31_4608+38del