Canonical Allele Identifier: CA2692445700

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822028-AGCAGGGTTGCAGCCCCGCAGCTCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822029_134822053del , CM000671.2:g.134822029_134822053del	GRCh38
NC_000009.11:g.137713875_137713899del , CM000671.1:g.137713875_137713899del	GRCh37
NC_000009.10:g.136853696_136853720del	NCBI36
NG_008030.1:g.185224_185248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4555-68_4555-44del	ENSP00000360885.4:n.4555-68_4555-44del
ENST00000371817.8:c.4555-68_4555-44del MANE Select	ENSP00000360882.3:n.4555-68_4555-44del
ENST00000371817.7:c.4555-68_4555-44del	ENSP00000360882.3:n.4555-68_4555-44del
ENST00000618395.4:c.4555-68_4555-44del	ENSP00000481360.1:n.4555-68_4555-44del
NM_000093.4:c.4555-68_4555-44del	NP_000084.3:n.4555-68_4555-44del
NM_001278074.1:c.4555-68_4555-44del	NP_001265003.1:n.4555-68_4555-44del
NR_103451.2:n.71-1844_71-1820del
XR_929712.1:n.4957-68_4957-44del
XR_929713.1:n.4957-68_4957-44del
XM_017014266.2:c.4555-68_4555-44del	XP_016869755.1:n.4555-68_4555-44del
XR_001746183.1:n.4953-68_4953-44del
NM_000093.5:c.4555-68_4555-44del MANE Select	NP_000084.3:n.4555-68_4555-44del