Canonical Allele Identifier: CA1315398581

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994567_188994568delinsAG , CM000664.2:g.188994567_188994568delinsAG	GRCh38
NC_000002.11:g.189859293_189859294delinsAG , CM000664.1:g.189859293_189859294delinsAG	GRCh37
NC_000002.10:g.189567538_189567539delinsAG	NCBI36
NG_007404.1:g.25195_25196delinsAG , LRG_3:g.25195_25196delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1221_1222delinsAG	ENSP00000415346.2:p.Lys407=
ENST00000304636.9:c.1320_1321delinsAG MANE Select	ENSP00000304408.4:p.Lys440=
ENST00000304636.7:c.1320_1321delinsAG	ENSP00000304408.3:p.Lys440=
ENST00000317840.9:c.1320_1321delinsAG	ENSP00000315243.6:p.Lys440=
NM_000090.3:c.1320_1321delinsAG , LRG_3t1:c.1320_1321delinsAG	NP_000081.1:p.Lys440=
NM_000090.4:c.1320_1321delinsAG MANE Select	NP_000081.2:p.Lys440=