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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_000002.12:g.102452347del , CM000664.2:g.102452347del
GRCh38
NC_000002.11:g.103068807del , CM000664.1:g.103068807del
GRCh37
NC_000002.10:g.102435239del
NCBI36
NG_011481.1:g.38554del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687160.1:c.*166del
MANE Select
ENSP00000510345.1:n.*166del
ENST00000264260.6:c.*166del
ENSP00000264260.2:n.*166del
ENST00000409369.1:c.*166del
ENSP00000387201.1:n.*166del
NM_003853.3:c.*166del
NP_003844.1:n.*166del
XM_011512087.1:c.*166del
XP_011510389.1:n.*166del
XM_011512088.1:c.*166del
XP_011510390.1:n.*166del
XM_011512087.2:c.*166del
XP_011510389.1:n.*166del
XM_011512088.2:c.*166del
XP_011510390.1:n.*166del
XM_017005173.1:c.*166del
XP_016860662.1:n.*166del
XM_024453197.1:c.*166del
XP_024308965.1:n.*166del
XM_024453198.1:c.*166del
XP_024308966.1:n.*166del
XM_024453199.1:c.*166del
XP_024308967.1:n.*166del
XM_024453200.1:c.*166del
XP_024308968.1:n.*166del
XM_024453201.1:c.*166del
XP_024308969.1:n.*166del
NM_001393486.1:c.*166del
NP_001380415.1:n.*166del
NM_001393487.1:c.*166del
MANE Select
NP_001380416.1:n.*166del
NM_001393488.1:c.*166del
NP_001380417.1:n.*166del
NM_001393489.1:c.*166del
NP_001380418.1:n.*166del
NM_003853.4:c.*166del
NP_003844.1:n.*166del