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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.130065871del , CM000685.2:g.130065871del
GRCh38
NC_000023.10:g.129199846del , CM000685.1:g.129199846del
GRCh37
NC_000023.9:g.129027527del
NCBI36
NG_016388.1:g.49846del , LRG_335:g.49846del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308167.10:c.*853del
MANE Select
ENSP00000311280.6:n.*853del
ENST00000308167.9:c.*853del
ENSP00000311280.5:n.*853del
ENST00000335997.11:c.*853del
ENSP00000338608.7:n.*853del
ENST00000615377.4:c.*853del
ENSP00000478297.1:n.*853del
NM_001127197.1:c.*853del
NP_001120669.1:n.*853del
NM_001421.3:c.*853del , LRG_335t1:c.*853del
NP_001412.1:n.*853del
XM_005262389.2:c.*853del
XP_005262446.1:n.*853del
XM_011531307.1:c.*853del
XP_011529609.1:n.*853del
XM_011531308.1:c.*853del
XP_011529610.1:n.*853del
XM_005262389.3:c.*853del
XP_005262446.1:n.*853del
XM_011531307.3:c.*853del
XP_011529609.1:n.*853del
XM_011531308.3:c.*853del
XP_011529610.1:n.*853del
NM_001127197.2:c.*853del
NP_001120669.1:n.*853del
NM_001421.4:c.*853del
MANE Select
NP_001412.1:n.*853del