Canonical Allele Identifier: CA1315398211
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993771_188993772delinsTA , CM000664.2:g.188993771_188993772delinsTA GRCh38
NC_000002.11:g.189858497_189858498delinsTA , CM000664.1:g.189858497_189858498delinsTA GRCh37
NC_000002.10:g.189566742_189566743delinsTA NCBI36
NG_007404.1:g.24399_24400delinsTA , LRG_3:g.24399_24400delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-267_1051-266delinsTA ENSP00000415346.2:n.1051-267_1051-266delinsTA
ENST00000304636.9:c.1150-267_1150-266delinsTA MANE Select ENSP00000304408.4:n.1150-267_1150-266delinsTA
ENST00000304636.7:c.1150-267_1150-266delinsTA ENSP00000304408.3:n.1150-267_1150-266delinsTA
ENST00000317840.9:c.1150-267_1150-266delinsTA ENSP00000315243.6:n.1150-267_1150-266delinsTA
ENST00000450867.1:c.149-267_149-266delinsTA
NM_000090.3:c.1150-267_1150-266delinsTA , LRG_3t1:c.1150-267_1150-266delinsTA NP_000081.1:n.1150-267_1150-266delinsTA
NM_000090.4:c.1150-267_1150-266delinsTA MANE Select NP_000081.2:n.1150-267_1150-266delinsTA