Canonical Allele Identifier: CA2753584181

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007940_189008035del , CM000664.2:g.189007940_189008035del	GRCh38
NC_000002.11:g.189872666_189872761del , CM000664.1:g.189872666_189872761del	GRCh37
NC_000002.10:g.189580911_189581006del	NCBI36
NG_007404.1:g.38568_38663del , LRG_3:g.38568_38663del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3318+2_3319del
ENST00000304636.9:c.3417+2_3418del
ENST00000304636.7:c.3417+2_3418del
ENST00000317840.9:c.2528-114_2528-19del	ENSP00000315243.6:n.2528-114_2528-19del
NM_000090.3:c.3417+2_3418del , LRG_3t1:c.3417+2_3418del
NM_000090.4:c.3417+2_3418del