Canonical Allele Identifier: CA762194529

Gene: COL3A1

Linked Data

• dbSNP Id: rs1157979038
• MyVariant Identifiers: chr2:g.189858438_189858442del (hg19) ; chr2:g.188993712_188993716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993713_188993717del , CM000664.2:g.188993713_188993717del	GRCh38
NC_000002.11:g.189858439_189858443del , CM000664.1:g.189858439_189858443del	GRCh37
NC_000002.10:g.189566684_189566688del	NCBI36
NG_007404.1:g.24341_24345del , LRG_3:g.24341_24345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-325_1051-321del	ENSP00000415346.2:n.1051-325_1051-321del
ENST00000304636.9:c.1149+254_1149+258del MANE Select	ENSP00000304408.4:n.1149+254_1149+258del
ENST00000304636.7:c.1149+254_1149+258del	ENSP00000304408.3:n.1149+254_1149+258del
ENST00000317840.9:c.1149+254_1149+258del	ENSP00000315243.6:n.1149+254_1149+258del
ENST00000450867.1:c.149-325_149-321del
NM_000090.3:c.1149+254_1149+258del , LRG_3t1:c.1149+254_1149+258del	NP_000081.1:n.1149+254_1149+258del
NM_000090.4:c.1149+254_1149+258del MANE Select	NP_000081.2:n.1149+254_1149+258del