Canonical Allele Identifier: CA1315397404
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992249_188992250delinsTA , CM000664.2:g.188992249_188992250delinsTA GRCh38
NC_000002.11:g.189856975_189856976delinsTA , CM000664.1:g.189856975_189856976delinsTA GRCh37
NC_000002.10:g.189565220_189565221delinsTA NCBI36
NG_007404.1:g.22877_22878delinsTA , LRG_3:g.22877_22878delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.996+21_996+22delinsTA ENSP00000415346.2:n.996+21_996+22delinsTA
ENST00000304636.9:c.996+21_996+22delinsTA MANE Select ENSP00000304408.4:n.996+21_996+22delinsTA
ENST00000304636.7:c.996+21_996+22delinsTA ENSP00000304408.3:n.996+21_996+22delinsTA
ENST00000317840.9:c.996+21_996+22delinsTA ENSP00000315243.6:n.996+21_996+22delinsTA
ENST00000450867.1:c.94+21_94+22delinsTA
NM_000090.3:c.996+21_996+22delinsTA , LRG_3t1:c.996+21_996+22delinsTA NP_000081.1:n.996+21_996+22delinsTA
NM_000090.4:c.996+21_996+22delinsTA MANE Select NP_000081.2:n.996+21_996+22delinsTA
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