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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_000009.12:g.37422696dup , CM000671.2:g.37422696dup
GRCh38
NC_000009.11:g.37422693dup , CM000671.1:g.37422693dup
GRCh37
NC_000009.10:g.37412693dup
NCBI36
NG_008135.1:g.4987dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000318158.11:c.-55dup
MANE Select
ENSP00000313432.6:n.-55dup
ENST00000318158.10:c.-55dup
ENSP00000313432.6:n.-55dup
ENST00000460882.5:n.1dup
ENST00000493368.5:n.31dup
XM_005251631.1:c.-55dup
XP_005251688.1:n.-55dup
XR_929374.1:n.31dup
XM_017015320.2:c.-55dup
XP_016870809.1:n.-55dup
XM_017015321.2:c.-55dup
XP_016870810.1:n.-55dup
XM_017015323.2:c.-817dup
XP_016870812.1:n.-817dup
XM_024447716.1:c.247dup
XP_024303484.1:p.Thr83AsnfsTer20
XM_024447717.1:c.247dup
XP_024303485.1:p.Thr83AsnfsTer20
XR_002956828.1:n.262dup
XR_002956829.1:n.262dup
XR_002956830.1:n.5dup
XR_002956831.1:n.1dup
XR_002956832.1:n.5dup
NM_012203.2:c.-55dup
MANE Select
NP_036335.1:n.-55dup