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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_000021.9:g.34449639G= , CM000683.2:g.34449639G=
GRCh38
NG_009091.1:g.66677C= , LRG_290:g.66677C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399286.3:c.-5C=
MANE Select
ENSP00000382226.2:n.-5C=
ENST00000337385.7:c.-5C=
ENSP00000337255.3:n.-5C=
ENST00000399284.1:c.-5C=
ENSP00000382225.1:n.-5C=
ENST00000399286.2:c.-5C=
ENSP00000382226.2:n.-5C=
ENST00000399289.7:c.-5C=
ENSP00000382228.3:n.-5C=
ENST00000416357.6:c.-5C=
ENSP00000416258.2:n.-5C=
ENST00000432085.5:c.-5C=
ENSP00000412498.1:n.-5C=
ENST00000611936.1:c.-5C=
ENSP00000478215.1:n.-5C=
ENST00000621601.4:c.-5C=
ENSP00000483895.1:n.-5C=
NM_000219.5:c.-5C=
NP_000210.2:n.-5C=
NM_001127668.3:c.-5C=
NP_001121140.1:n.-5C=
NM_001127669.3:c.-5C=
NP_001121141.1:n.-5C=
NM_001127670.3:c.-5C=
NP_001121142.1:n.-5C=
NM_001270402.2:c.-5C=
NP_001257331.1:n.-5C=
NM_001270403.2:c.-5C=
NP_001257332.1:n.-5C=
NM_001270404.2:c.-5C=
NP_001257333.1:n.-5C=
NM_001270405.2:c.-5C=
NP_001257334.1:n.-5C=
XM_011529555.1:c.13+5747C=
XP_011527857.1:n.13+5747C=
XM_011529557.1:c.279+9015C=
XP_011527859.1:n.279+9015C=
XM_017028342.1:c.59C=
XP_016883831.1:p.Pro20=
NM_000219.6:c.-5C=
MANE Select
NP_000210.2:n.-5C=
NM_001127669.4:c.-5C=
NP_001121141.1:n.-5C=
NM_001127668.4:c.-5C=
NP_001121140.1:n.-5C=
NM_001127670.4:c.-5C=
NP_001121142.1:n.-5C=
NM_001270402.3:c.-5C=
NP_001257331.1:n.-5C=
NM_001270404.3:c.-5C=
NP_001257333.1:n.-5C=
NM_001270405.3:c.-5C=
NP_001257334.1:n.-5C=