Canonical Allele Identifier: CA2662288639
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-188993443-GTGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993445_188993447del , CM000664.2:g.188993445_188993447del GRCh38
NC_000002.11:g.189858171_189858173del , CM000664.1:g.189858171_189858173del GRCh37
NC_000002.10:g.189566416_189566418del NCBI36
NG_007404.1:g.24073_24075del , LRG_3:g.24073_24075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+505_1050+507del ENSP00000415346.2:n.1050+505_1050+507del
ENST00000304636.9:c.1135_1137del MANE Select ENSP00000304408.4:p.Ala379del
ENST00000304636.7:c.1135_1137del ENSP00000304408.3:p.Ala379del
ENST00000317840.9:c.1135_1137del ENSP00000315243.6:p.Ala379del
ENST00000450867.1:c.148+505_148+507del
NM_000090.3:c.1135_1137del , LRG_3t1:c.1135_1137del NP_000081.1:p.Ala379del
NM_000090.4:c.1135_1137del MANE Select NP_000081.2:p.Ala379del
Search 100 bp 5'
Search 100 bp 3'