Canonical Allele Identifier: CA1315398126

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993555_188993556delinsAT , CM000664.2:g.188993555_188993556delinsAT	GRCh38
NC_000002.11:g.189858281_189858282delinsAT , CM000664.1:g.189858281_189858282delinsAT	GRCh37
NC_000002.10:g.189566526_189566527delinsAT	NCBI36
NG_007404.1:g.24183_24184delinsAT , LRG_3:g.24183_24184delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-483_1051-482delinsAT	ENSP00000415346.2:n.1051-483_1051-482delinsAT
ENST00000304636.9:c.1149+96_1149+97delinsAT MANE Select	ENSP00000304408.4:n.1149+96_1149+97delinsAT
ENST00000304636.7:c.1149+96_1149+97delinsAT	ENSP00000304408.3:n.1149+96_1149+97delinsAT
ENST00000317840.9:c.1149+96_1149+97delinsAT	ENSP00000315243.6:n.1149+96_1149+97delinsAT
ENST00000450867.1:c.149-483_149-482delinsAT
NM_000090.3:c.1149+96_1149+97delinsAT , LRG_3t1:c.1149+96_1149+97delinsAT	NP_000081.1:n.1149+96_1149+97delinsAT
NM_000090.4:c.1149+96_1149+97delinsAT MANE Select	NP_000081.2:n.1149+96_1149+97delinsAT