Canonical Allele Identifier: CA2692461560

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134834884-GAGTGAAGCCCAGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834889_134834903del , CM000671.2:g.134834889_134834903del	GRCh38
NC_000009.11:g.137726735_137726749del , CM000671.1:g.137726735_137726749del	GRCh37
NC_000009.10:g.136866556_136866570del	NCBI36
NG_008030.1:g.198084_198098del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-82_5137-68del	ENSP00000360885.4:n.5137-82_5137-68del
ENST00000371817.8:c.5137-82_5137-68del MANE Select	ENSP00000360882.3:n.5137-82_5137-68del
ENST00000371817.7:c.5137-82_5137-68del	ENSP00000360882.3:n.5137-82_5137-68del
ENST00000371820.3:c.395-82_395-68del
ENST00000618395.4:c.5137-82_5137-68del	ENSP00000481360.1:n.5137-82_5137-68del
NM_000093.4:c.5137-82_5137-68del	NP_000084.3:n.5137-82_5137-68del
NM_001278074.1:c.5137-82_5137-68del	NP_001265003.1:n.5137-82_5137-68del
NR_103451.2:n.71-14690_71-14676del
XR_929712.1:n.5821-82_5821-68del
XR_929713.1:n.5689-82_5689-68del
XM_017014266.2:c.*2136_*2150del	XP_016869755.1:n.*2136_*2150del
XR_001746183.1:n.7814_7828del
NM_000093.5:c.5137-82_5137-68del MANE Select	NP_000084.3:n.5137-82_5137-68del