Canonical Allele Identifier: CA2769904120
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585607_7585608insCACACCCAACAC , CM000668.2:g.7585607_7585608insCACACCCAACAC GRCh38
NC_000006.11:g.7585840_7585841insCACACCCAACAC , CM000668.1:g.7585840_7585841insCACACCCAACAC GRCh37
NC_000006.10:g.7530839_7530840insCACACCCAACAC NCBI36
NG_008803.1:g.48971_48972insCACACCCAACAC , LRG_423:g.48971_48972insCACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7016_7017insCACACCCAACAC ENSP00000518230.1:p.Lys2339delinsAsnThrProAsnThr
ENST00000379802.8:c.8345_8346insCACACCCAACAC MANE Select ENSP00000369129.3:p.Lys2782delinsAsnThrProAsnThr
ENST00000379802.7:c.8345_8346insCACACCCAACAC ENSP00000369129.3:p.Lys2782delinsAsnThrProAsnThr
ENST00000418664.2:c.6548_6549insCACACCCAACAC ENSP00000396591.2:p.Lys2183delinsAsnThrProAsnThr
NM_001008844.1:c.6548_6549insCACACCCAACAC NP_001008844.1:p.Lys2183delinsAsnThrProAsnThr
NM_004415.2:c.8345_8346insCACACCCAACAC , LRG_423t1:c.8345_8346insCACACCCAACAC NP_004406.2:p.Lys2782delinsAsnThrProAsnThr
XM_011514323.1:c.7016_7017insCACACCCAACAC XP_011512625.1:p.Lys2339delinsAsnThrProAsnThr
NM_001008844.2:c.6548_6549insCACACCCAACAC NP_001008844.1:p.Lys2183delinsAsnThrProAsnThr
NM_001319034.1:c.7016_7017insCACACCCAACAC NP_001305963.1:p.Lys2339delinsAsnThrProAsnThr
NM_004415.3:c.8345_8346insCACACCCAACAC NP_004406.2:p.Lys2782delinsAsnThrProAsnThr
NM_004415.4:c.8345_8346insCACACCCAACAC MANE Select NP_004406.2:p.Lys2782delinsAsnThrProAsnThr
NM_001008844.3:c.6548_6549insCACACCCAACAC NP_001008844.1:p.Lys2183delinsAsnThrProAsnThr
NM_001319034.2:c.7016_7017insCACACCCAACAC NP_001305963.1:p.Lys2339delinsAsnThrProAsnThr