×
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.37422700del , CM000671.2:g.37422700del
GRCh38
NC_000009.11:g.37422697del , CM000671.1:g.37422697del
GRCh37
NC_000009.10:g.37412697del
NCBI36
NG_008135.1:g.4991del
Transcript Alleles
HGVS
Amino-acid change
ENST00000318158.11:c.-51del
MANE Select
ENSP00000313432.6:n.-51del
ENST00000318158.10:c.-51del
ENSP00000313432.6:n.-51del
ENST00000460882.5:n.5del
ENST00000493368.5:n.35del
XM_005251631.1:c.-51del
XP_005251688.1:n.-51del
XR_929374.1:n.35del
XM_017015320.2:c.-51del
XP_016870809.1:n.-51del
XM_017015321.2:c.-51del
XP_016870810.1:n.-51del
XM_017015323.2:c.-813del
XP_016870812.1:n.-813del
XM_024447716.1:c.251del
XP_024303484.1:p.Phe84SerfsTer?
XM_024447717.1:c.251del
XP_024303485.1:p.Phe84SerfsTer?
XR_002956828.1:n.266del
XR_002956829.1:n.266del
XR_002956830.1:n.9del
XR_002956831.1:n.5del
XR_002956832.1:n.9del
NM_012203.2:c.-51del
MANE Select
NP_036335.1:n.-51del