Canonical Allele Identifier: CA538462342

Gene: COL3A1

Linked Data

• dbSNP Id: rs1370100725
• gnomAD v2: 2-189860803-TTTA-T
• gnomAD v4: 2-188996077-TTTA-T
• MyVariant Identifiers: chr2:g.189860804_189860806del (hg19) ; chr2:g.188996078_188996080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188996083_188996085del , CM000664.2:g.188996083_188996085del	GRCh38
NC_000002.11:g.189860809_189860811del , CM000664.1:g.189860809_189860811del	GRCh37
NC_000002.10:g.189569054_189569056del	NCBI36
NG_007404.1:g.26711_26713del , LRG_3:g.26711_26713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.1510-42_1510-40del	ENSP00000415346.2:n.1510-42_1510-40del
ENST00000304636.9:c.1609-42_1609-40del MANE Select	ENSP00000304408.4:n.1609-42_1609-40del
ENST00000304636.7:c.1609-42_1609-40del	ENSP00000304408.3:n.1609-42_1609-40del
ENST00000317840.9:c.1609-42_1609-40del	ENSP00000315243.6:n.1609-42_1609-40del
NM_000090.3:c.1609-42_1609-40del , LRG_3t1:c.1609-42_1609-40del	NP_000081.1:n.1609-42_1609-40del
NM_000090.4:c.1609-42_1609-40del MANE Select	NP_000081.2:n.1609-42_1609-40del