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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.3659858del , CM000679.2:g.3659858del
GRCh38
NC_000017.10:g.3563152del , CM000679.1:g.3563152del
GRCh37
NC_000017.9:g.3509901del
NCBI36
NG_012489.1:g.28391del
NG_012489.2:g.28391del
Transcript Alleles
HGVS
Amino-acid change
ENST00000046640.9:c.853del
ENST00000381870.8:c.853del
ENST00000488623.6:c.100del
ENST00000574776.6:c.412del
ENST00000673669.1:c.412del
ENST00000673965.1:c.853del
ENST00000046640.7:c.853del
ENST00000381870.7:c.853del
NM_001031681.2:c.853del
NM_004937.2:c.853del
XM_005256485.1:c.853del
XM_006721463.1:c.853del
XM_006721464.1:c.412del
XM_011523691.1:c.853del
XM_011523692.1:c.412del
XR_934003.1:n.2779del
XM_005256485.3:c.853del
XM_006721463.3:c.853del
XM_006721464.2:c.412del
XM_011523691.2:c.853del
XM_011523692.2:c.412del
XM_017024254.1:c.412del
XM_017024255.1:c.412del
XM_017024256.1:c.412del
XM_017024257.1:c.412del
XM_017024258.1:c.412del
NM_001374492.1:c.853del
NM_001374493.1:c.412del
NM_001374494.1:c.412del
NM_001374495.1:c.412del
NM_001374496.1:c.412del
NM_004937.3:c.853del
NM_001031681.3:c.853del