Canonical Allele Identifier: CA591117546

Gene: COL5A1

Linked Data

• dbSNP Id: rs1197713461
• gnomAD v2: 9-137734856-TTAGAAA-T
• gnomAD v3: 9-134843010-TTAGAAA-T
• gnomAD v4: 9-134843010-TTAGAAA-T
• MyVariant Identifiers: chr9:g.137734857_137734862del (hg19) ; chr9:g.134843011_134843016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843014_134843019del , CM000671.2:g.134843014_134843019del	GRCh38
NC_000009.11:g.137734860_137734865del , CM000671.1:g.137734860_137734865del	GRCh37
NC_000009.10:g.136874681_136874686del	NCBI36
NG_008030.1:g.206209_206214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*711_*716del	ENSP00000360885.4:n.*711_*716del
ENST00000371817.8:c.*711_*716del MANE Select	ENSP00000360882.3:n.*711_*716del
ENST00000371817.7:c.*711_*716del	ENSP00000360882.3:n.*711_*716del
ENST00000618395.4:c.*711_*716del	ENSP00000481360.1:n.*711_*716del
NM_000093.4:c.*711_*716del	NP_000084.3:n.*711_*716del
NM_001278074.1:c.*711_*716del	NP_001265003.1:n.*711_*716del
NR_103451.2:n.71-22807_71-22802del
NM_000093.5:c.*711_*716del MANE Select	NP_000084.3:n.*711_*716del