Canonical Allele Identifier: CA1315396250
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989546_188989547delinsAT , CM000664.2:g.188989546_188989547delinsAT GRCh38
NC_000002.11:g.189854272_189854273delinsAT , CM000664.1:g.189854272_189854273delinsAT GRCh37
NC_000002.10:g.189562517_189562518delinsAT NCBI36
NG_007404.1:g.20174_20175delinsAT , LRG_3:g.20174_20175delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+97_690+98delinsAT ENSP00000415346.2:n.690+97_690+98delinsAT
ENST00000304636.9:c.690+97_690+98delinsAT MANE Select ENSP00000304408.4:n.690+97_690+98delinsAT
ENST00000304636.7:c.690+97_690+98delinsAT ENSP00000304408.3:n.690+97_690+98delinsAT
ENST00000317840.9:c.690+97_690+98delinsAT ENSP00000315243.6:n.690+97_690+98delinsAT
NM_000090.3:c.690+97_690+98delinsAT , LRG_3t1:c.690+97_690+98delinsAT NP_000081.1:n.690+97_690+98delinsAT
NM_000090.4:c.690+97_690+98delinsAT MANE Select NP_000081.2:n.690+97_690+98delinsAT