Canonical Allele Identifier: CA2677224145
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7577045-ATGTTGGTTTCATAAAGAATGTTGGTATTTCACCAAGATTATTATTAACTGCATGACTTGCTGATTTGTTGTAAAGCGTATACACTTCCTGAGGATAGCAATTACGGTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7577049_7577156del , CM000668.2:g.7577049_7577156del GRCh38
NC_000006.11:g.7577282_7577389del , CM000668.1:g.7577282_7577389del GRCh37
NC_000006.10:g.7522281_7522388del NCBI36
NG_008803.1:g.40413_40520del , LRG_423:g.40413_40520del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.2877+7_2877+114del ENSP00000518230.1:n.2877+7_2877+114del
ENST00000379802.8:c.2877+7_2877+114del MANE Select ENSP00000369129.3:n.2877+7_2877+114del
ENST00000379802.7:c.2877+7_2877+114del ENSP00000369129.3:n.2877+7_2877+114del
ENST00000418664.2:c.2877+7_2877+114del ENSP00000396591.2:n.2877+7_2877+114del
NM_001008844.1:c.2877+7_2877+114del NP_001008844.1:n.2877+7_2877+114del
NM_004415.2:c.2877+7_2877+114del , LRG_423t1:c.2877+7_2877+114del NP_004406.2:n.2877+7_2877+114del
XM_011514323.1:c.2877+7_2877+114del XP_011512625.1:n.2877+7_2877+114del
NM_001008844.2:c.2877+7_2877+114del NP_001008844.1:n.2877+7_2877+114del
NM_001319034.1:c.2877+7_2877+114del NP_001305963.1:n.2877+7_2877+114del
NM_004415.3:c.2877+7_2877+114del NP_004406.2:n.2877+7_2877+114del
NM_004415.4:c.2877+7_2877+114del MANE Select NP_004406.2:n.2877+7_2877+114del
NM_001008844.3:c.2877+7_2877+114del NP_001008844.1:n.2877+7_2877+114del
NM_001319034.2:c.2877+7_2877+114del NP_001305963.1:n.2877+7_2877+114del
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