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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.39397062del , CM000665.2:g.39397062del
GRCh38
NC_000003.11:g.39438553del , CM000665.1:g.39438553del
GRCh37
NC_000003.10:g.39413557del
NCBI36
NG_016931.1:g.18739del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648579.1:c.*754del
ENSP00000497638.1:n.*754del
ENST00000650617.1:c.*542del
MANE Select
ENSP00000497532.1:n.*542del
ENST00000273158.8:c.*542del
ENSP00000273158.3:n.*542del
NM_017875.2:c.*542del
NP_060345.2:n.*542del
XM_006713214.1:c.*542del
XP_006713277.1:n.*542del
XM_011533869.1:c.*542del
XP_011532171.1:n.*542del
XM_011533870.1:c.*542del
XP_011532172.1:n.*542del
XM_011533871.1:c.*542del
XP_011532173.1:n.*542del
NM_001354798.1:c.*576del
NP_001341727.1:n.*576del
NM_017875.4:c.*542del
MANE Select
NP_060345.2:n.*542del
XM_006713214.2:c.*542del
XP_006713277.1:n.*542del
XM_011533869.2:c.*542del
XP_011532171.1:n.*542del
XM_024453611.1:c.*542del
XP_024309379.1:n.*542del
NM_001354798.2:c.*576del
NP_001341727.1:n.*576del