×
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_000001.11:g.197039416del , CM000663.2:g.197039416del
GRCh38
NC_000001.10:g.197008546del , CM000663.1:g.197008546del
GRCh37
NC_000001.9:g.195275169del
NCBI36
NG_012065.1:g.32852del , LRG_550:g.32852del
Transcript Alleles
HGVS
Amino-acid change
ENST00000367412.2:c.1953-5del
MANE Select
ENSP00000356382.2:n.1953-5del
ENST00000649282.1:c.708-5del
ENSP00000497116.1:n.708-5del
ENST00000367412.1:c.1953-5del
ENSP00000356382.1:n.1953-5del
NM_001994.2:c.1953-5del , LRG_550t1:c.1953-5del
NP_001985.2:n.1953-5del
XM_011509283.2:c.*883del
XP_011507585.1:n.*883del
XM_011509284.2:c.*883del
XP_011507586.1:n.*883del
XM_011509286.2:c.*883del
XP_011507588.1:n.*883del
NM_001994.3:c.1953-5del
MANE Select
NP_001985.2:n.1953-5del