Canonical Allele Identifier: CA62562330

Gene: COL3A1

Linked Data

• dbSNP Id: rs754939527
• gnomAD v4: 2-189008408-GT-G
• MyVariant Identifiers: chr2:g.189873135del (hg19) ; chr2:g.189008409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008409del , CM000664.2:g.189008409del	GRCh38
NC_000002.11:g.189873135del , CM000664.1:g.189873135del	GRCh37
NC_000002.10:g.189581380del	NCBI36
NG_007404.1:g.39037del , LRG_3:g.39037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+267del	ENSP00000415346.2:n.3426+267del
ENST00000304636.9:c.3525+267del MANE Select	ENSP00000304408.4:n.3525+267del
ENST00000304636.7:c.3525+267del	ENSP00000304408.3:n.3525+267del
ENST00000317840.9:c.2616+267del	ENSP00000315243.6:n.2616+267del
ENST00000487010.1:n.108del
NM_000090.3:c.3525+267del , LRG_3t1:c.3525+267del	NP_000081.1:n.3525+267del
NM_000090.4:c.3525+267del MANE Select	NP_000081.2:n.3525+267del