Canonical Allele Identifier: CA2972745359

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006406_189006407insGACAGGACCAGG , CM000664.2:g.189006406_189006407insGACAGGACCAGG	GRCh38
NC_000002.11:g.189871132_189871133insGACAGGACCAGG , CM000664.1:g.189871132_189871133insGACAGGACCAGG	GRCh37
NC_000002.10:g.189579377_189579378insGACAGGACCAGG	NCBI36
NG_007404.1:g.37034_37035insGACAGGACCAGG , LRG_3:g.37034_37035insGACAGGACCAGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000090.4:c.3155_3156insGACAGGACCAGG MANE Select	NP_000081.2:p.Pro1052_Gly1053insThrGlyProGly
ENST00000304636.9:c.3155_3156insGACAGGACCAGG MANE Select	ENSP00000304408.4:p.Pro1052_Gly1053insThrGlyProGly
NM_000090.3:c.3155_3156insGACAGGACCAGG , LRG_3t1:c.3155_3156insGACAGGACCAGG	NP_000081.1:p.Pro1052_Gly1053insThrGlyProGly
ENST00000304636.7:c.3155_3156insGACAGGACCAGG	ENSP00000304408.3:p.Pro1052_Gly1053insThrGlyProGly
ENST00000317840.9:c.2528-1648_2528-1647insGACAGGACCAGG	ENSP00000315243.6:n.2528-1648_2528-1647insGACAGGACCAGG
ENST00000450867.2:c.3056_3057insGACAGGACCAGG	ENSP00000415346.2:p.Pro1019_Gly1020insThrGlyProGly