Canonical Allele Identifier: CA2677220681

Gene: DSP

Linked Data

• gnomAD v4: 6-7566230-T-TGTGATTCTTGAGGAAAACAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7566240_7566260dup , CM000668.2:g.7566240_7566260dup	GRCh38
NC_000006.11:g.7566473_7566493dup , CM000668.1:g.7566473_7566493dup	GRCh37
NC_000006.10:g.7511472_7511492dup	NCBI36
NG_008803.1:g.29604_29624dup , LRG_423:g.29604_29624dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.940-137_940-117dup	ENSP00000518230.1:n.940-137_940-117dup
ENST00000682228.1:n.264-137_264-117dup
ENST00000379802.8:c.940-137_940-117dup MANE Select	ENSP00000369129.3:n.940-137_940-117dup
ENST00000379802.7:c.940-137_940-117dup	ENSP00000369129.3:n.940-137_940-117dup
ENST00000418664.2:c.940-137_940-117dup	ENSP00000396591.2:n.940-137_940-117dup
NM_001008844.1:c.940-137_940-117dup	NP_001008844.1:n.940-137_940-117dup
NM_004415.2:c.940-137_940-117dup , LRG_423t1:c.940-137_940-117dup	NP_004406.2:n.940-137_940-117dup
XM_011514323.1:c.940-137_940-117dup	XP_011512625.1:n.940-137_940-117dup
NM_001008844.2:c.940-137_940-117dup	NP_001008844.1:n.940-137_940-117dup
NM_001319034.1:c.940-137_940-117dup	NP_001305963.1:n.940-137_940-117dup
NM_004415.3:c.940-137_940-117dup	NP_004406.2:n.940-137_940-117dup
NM_004415.4:c.940-137_940-117dup MANE Select	NP_004406.2:n.940-137_940-117dup
NM_001008844.3:c.940-137_940-117dup	NP_001008844.1:n.940-137_940-117dup
NM_001319034.2:c.940-137_940-117dup	NP_001305963.1:n.940-137_940-117dup