Canonical Allele Identifier: CA591117559

Gene: COL5A1

Linked Data

• gnomAD v2: 9-137734886-CTGG-C
• gnomAD v3: 9-134843040-CTGG-C
• gnomAD v4: 9-134843040-CTGG-C
• MyVariant Identifiers: chr9:g.137734887_137734889del (hg19) ; chr9:g.134843041_134843043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843041_134843043del , CM000671.2:g.134843041_134843043del	GRCh38
NC_000009.11:g.137734887_137734889del , CM000671.1:g.137734887_137734889del	GRCh37
NC_000009.10:g.136874708_136874710del	NCBI36
NG_008030.1:g.206236_206238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*738_*740del	ENSP00000360885.4:n.*738_*740del
ENST00000371817.8:c.*738_*740del MANE Select	ENSP00000360882.3:n.*738_*740del
ENST00000371817.7:c.*738_*740del	ENSP00000360882.3:n.*738_*740del
ENST00000618395.4:c.*738_*740del	ENSP00000481360.1:n.*738_*740del
NM_000093.4:c.*738_*740del	NP_000084.3:n.*738_*740del
NM_001278074.1:c.*738_*740del	NP_001265003.1:n.*738_*740del
NR_103451.2:n.71-22834_71-22832del
NM_000093.5:c.*738_*740del MANE Select	NP_000084.3:n.*738_*740del