Canonical Allele Identifier: CA2677221225
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7567222-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567227dup , CM000668.2:g.7567227dup GRCh38
NC_000006.11:g.7567460dup , CM000668.1:g.7567460dup GRCh37
NC_000006.10:g.7512459dup NCBI36
NG_008803.1:g.30591dup , LRG_423:g.30591dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1045-127dup ENSP00000518230.1:n.1045-127dup
ENST00000682228.1:n.369-127dup
ENST00000379802.8:c.1045-127dup MANE Select ENSP00000369129.3:n.1045-127dup
ENST00000379802.7:c.1045-127dup ENSP00000369129.3:n.1045-127dup
ENST00000418664.2:c.1045-127dup ENSP00000396591.2:n.1045-127dup
NM_001008844.1:c.1045-127dup NP_001008844.1:n.1045-127dup
NM_004415.2:c.1045-127dup , LRG_423t1:c.1045-127dup NP_004406.2:n.1045-127dup
XM_011514323.1:c.1045-127dup XP_011512625.1:n.1045-127dup
NM_001008844.2:c.1045-127dup NP_001008844.1:n.1045-127dup
NM_001319034.1:c.1045-127dup NP_001305963.1:n.1045-127dup
NM_004415.3:c.1045-127dup NP_004406.2:n.1045-127dup
NM_004415.4:c.1045-127dup MANE Select NP_004406.2:n.1045-127dup
NM_001008844.3:c.1045-127dup NP_001008844.1:n.1045-127dup
NM_001319034.2:c.1045-127dup NP_001305963.1:n.1045-127dup