Canonical Allele Identifier: CA2692445867

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822183-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822185_134822186del , CM000671.2:g.134822185_134822186del	GRCh38
NC_000009.11:g.137714031_137714032del , CM000671.1:g.137714031_137714032del	GRCh37
NC_000009.10:g.136853852_136853853del	NCBI36
NG_008030.1:g.185380_185381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+35_4608+36del	ENSP00000360885.4:n.4608+35_4608+36del
ENST00000371817.8:c.4608+35_4608+36del MANE Select	ENSP00000360882.3:n.4608+35_4608+36del
ENST00000371817.7:c.4608+35_4608+36del	ENSP00000360882.3:n.4608+35_4608+36del
ENST00000618395.4:c.4608+35_4608+36del	ENSP00000481360.1:n.4608+35_4608+36del
NM_000093.4:c.4608+35_4608+36del	NP_000084.3:n.4608+35_4608+36del
NM_001278074.1:c.4608+35_4608+36del	NP_001265003.1:n.4608+35_4608+36del
NR_103451.2:n.71-1976_71-1975del
XR_929712.1:n.5010+35_5010+36del
XR_929713.1:n.5010+35_5010+36del
XM_017014266.2:c.4608+35_4608+36del	XP_016869755.1:n.4608+35_4608+36del
XR_001746183.1:n.5006+35_5006+36del
NM_000093.5:c.4608+35_4608+36del MANE Select	NP_000084.3:n.4608+35_4608+36del