Canonical Allele Identifier: CA2541898258
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585707_7585711del , CM000668.2:g.7585707_7585711del GRCh38
NC_000006.11:g.7585940_7585944del , CM000668.1:g.7585940_7585944del GRCh37
NC_000006.10:g.7530939_7530943del NCBI36
NG_008803.1:g.49071_49075del , LRG_423:g.49071_49075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7116_7120del ENSP00000518230.1:p.Ser2372ArgfsTer?
ENST00000379802.8:c.8445_8449del MANE Select ENSP00000369129.3:p.Ser2815ArgfsTer?
ENST00000379802.7:c.8445_8449del ENSP00000369129.3:p.Ser2815ArgfsTer?
ENST00000418664.2:c.6648_6652del ENSP00000396591.2:p.Ser2216ArgfsTer?
NM_001008844.1:c.6648_6652del NP_001008844.1:p.Ser2216ArgfsTer?
NM_004415.2:c.8445_8449del , LRG_423t1:c.8445_8449del NP_004406.2:p.Ser2815ArgfsTer?
XM_011514323.1:c.7116_7120del XP_011512625.1:p.Ser2372ArgfsTer?
NM_001008844.2:c.6648_6652del NP_001008844.1:p.Ser2216ArgfsTer?
NM_001319034.1:c.7116_7120del NP_001305963.1:p.Ser2372ArgfsTer?
NM_004415.3:c.8445_8449del NP_004406.2:p.Ser2815ArgfsTer?
NM_004415.4:c.8445_8449del MANE Select NP_004406.2:p.Ser2815ArgfsTer?
NM_001008844.3:c.6648_6652del NP_001008844.1:p.Ser2216ArgfsTer?
NM_001319034.2:c.7116_7120del NP_001305963.1:p.Ser2372ArgfsTer?