Canonical Allele Identifier: CA1608636361
Gene: DSP HGNC NCBI
DSP-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1351741224
gnomAD v4: 6-7541639-GACCAAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7541649_7541654del , CM000668.2:g.7541649_7541654del GRCh38
NC_000006.11:g.7541882_7541887del , CM000668.1:g.7541882_7541887del GRCh37
NC_000006.10:g.7486881_7486886del NCBI36
NG_008803.1:g.5013_5018del , LRG_423:g.5013_5018del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.-267_-262del (DSP) ENSP00000518230.1:n.-267_-262del
ENST00000379802.7:c.-267_-262del (DSP) ENSP00000369129.3:n.-267_-262del
ENST00000418664.2:c.-267_-262del (DSP) ENSP00000396591.2:n.-267_-262del
NM_001008844.1:c.-267_-262del (DSP) NP_001008844.1:n.-267_-262del
NM_004415.2:c.-267_-262del , LRG_423t1:c.-267_-262del (DSP) NP_004406.2:n.-267_-262del
XM_011514323.1:c.-267_-262del (DSP) XP_011512625.1:n.-267_-262del
XR_241971.2:n.269-592_269-587del (DSP-AS1)
NM_001008844.2:c.-267_-262del (DSP) NP_001008844.1:n.-267_-262del
NM_001319034.1:c.-267_-262del (DSP) NP_001305963.1:n.-267_-262del
NM_004415.3:c.-267_-262del (DSP) NP_004406.2:n.-267_-262del
XR_241970.4:n.82_87del (DSP-AS1)
XR_241971.3:n.270-592_270-587del (DSP-AS1)
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