Canonical Allele Identifier: CA762205648

Gene: COL3A1

Linked Data

• dbSNP Id: rs1427582913
• gnomAD v4: 2-189005573-CTA-C
• MyVariant Identifiers: chr2:g.189870300_189870301del (hg19) ; chr2:g.189005574_189005575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189005575_189005576del , CM000664.2:g.189005575_189005576del	GRCh38
NC_000002.11:g.189870301_189870302del , CM000664.1:g.189870301_189870302del	GRCh37
NC_000002.10:g.189578546_189578547del	NCBI36
NG_007404.1:g.36203_36204del , LRG_3:g.36203_36204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2940+118_2940+119del	ENSP00000415346.2:n.2940+118_2940+119del
ENST00000304636.9:c.3039+118_3039+119del MANE Select	ENSP00000304408.4:n.3039+118_3039+119del
ENST00000304636.7:c.3039+118_3039+119del	ENSP00000304408.3:n.3039+118_3039+119del
ENST00000317840.9:c.2528-2479_2528-2478del	ENSP00000315243.6:n.2528-2479_2528-2478del
NM_000090.3:c.3039+118_3039+119del , LRG_3t1:c.3039+118_3039+119del	NP_000081.1:n.3039+118_3039+119del
NM_000090.4:c.3039+118_3039+119del MANE Select	NP_000081.2:n.3039+118_3039+119del