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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31542645_31542654delinsTGAGATGTCC , CM000680.2:g.31542645_31542654delinsTGAGATGTCC
GRCh38
NC_000018.9:g.29122608_29122617delinsTGAGATGTCC , CM000680.1:g.29122608_29122617delinsTGAGATGTCC
GRCh37
NC_000018.8:g.27376606_27376615delinsTGAGATGTCC
NCBI36
NG_007072.3:g.49404_49413delinsTGAGATGTCC , LRG_397:g.49404_49413delinsTGAGATGTCC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261590.13:c.2127_2136delinsTGAGATGTCC
(DSG2)
MANE Select
ENSP00000261590.8:p.His709=
ENST00000261590.12:c.2127_2136delinsTGAGATGTCC
(DSG2)
ENSP00000261590.8:p.His709=
NM_001943.3:c.2127_2136delinsTGAGATGTCC , LRG_397t1:c.2127_2136delinsTGAGATGTCC
(DSG2)
NP_001934.2:p.His709=
NR_045216.1:n.1811-333_1811-324delinsGGACATCTCA
(DSG2-AS1)
NM_001943.4:c.2127_2136delinsTGAGATGTCC
(DSG2)
NP_001934.2:p.His709=
XM_024451095.1:c.1593_1602delinsTGAGATGTCC
(DSG2)
XP_024306863.1:p.His531=
NM_001943.5:c.2127_2136delinsTGAGATGTCC
(DSG2)
MANE Select
NP_001934.2:p.His709=