Canonical Allele Identifier: CA2586970927
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006939_189006965del , CM000664.2:g.189006939_189006965del GRCh38
NC_000002.11:g.189871665_189871691del , CM000664.1:g.189871665_189871691del GRCh37
NC_000002.10:g.189579910_189579936del NCBI36
NG_007404.1:g.37567_37593del , LRG_3:g.37567_37593del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3105_3131del ENSP00000415346.2:p.Pro1036_Gly1044del
ENST00000304636.9:c.3204_3230del MANE Select ENSP00000304408.4:p.Pro1069_Gly1077del
ENST00000304636.7:c.3204_3230del ENSP00000304408.3:p.Pro1069_Gly1077del
ENST00000317840.9:c.2528-1115_2528-1089del ENSP00000315243.6:n.2528-1115_2528-1089de...
NM_000090.3:c.3204_3230del , LRG_3t1:c.3204_3230del NP_000081.1:p.Pro1069_Gly1077del
NM_000090.4:c.3204_3230del MANE Select NP_000081.2:p.Pro1069_Gly1077del
Search 100 bp 5'
Search 100 bp 3'