Canonical Allele Identifier: CA62561198
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs951708291
gnomAD v2: 2-189872128-TAGAA-T
gnomAD v3: 2-189007402-TAGAA-T
gnomAD v4: 2-189007402-TAGAA-T
MyVariant Identifiers: chr2:g.189872129_189872132del (hg19) chr2:g.189007403_189007406del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007405_189007408del , CM000664.2:g.189007405_189007408del GRCh38
NC_000002.11:g.189872131_189872134del , CM000664.1:g.189872131_189872134del GRCh37
NC_000002.10:g.189580376_189580379del NCBI36
NG_007404.1:g.38033_38036del , LRG_3:g.38033_38036del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3157-95_3157-92del ENSP00000415346.2:n.3157-95_3157-92del
ENST00000304636.9:c.3256-95_3256-92del MANE Select ENSP00000304408.4:n.3256-95_3256-92del
ENST00000304636.7:c.3256-95_3256-92del ENSP00000304408.3:n.3256-95_3256-92del
ENST00000317840.9:c.2528-649_2528-646del ENSP00000315243.6:n.2528-649_2528-646del
NM_000090.3:c.3256-95_3256-92del , LRG_3t1:c.3256-95_3256-92del NP_000081.1:n.3256-95_3256-92del
NM_000090.4:c.3256-95_3256-92del MANE Select NP_000081.2:n.3256-95_3256-92del
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