Canonical Allele Identifier: CA2842014849

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580008dup , CM000668.2:g.7580008dup	GRCh38
NC_000006.11:g.7580241dup , CM000668.1:g.7580241dup	GRCh37
NC_000006.10:g.7525240dup	NCBI36
NG_008803.1:g.43372dup , LRG_423:g.43372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3818dup	ENSP00000518230.1:p.Asn1273LysfsTer11
ENST00000379802.8:c.3818dup MANE Select	ENSP00000369129.3:p.Asn1273LysfsTer11
ENST00000379802.7:c.3818dup	ENSP00000369129.3:p.Asn1273LysfsTer11
ENST00000418664.2:c.3582+236dup	ENSP00000396591.2:n.3582+236dup
NM_001008844.1:c.3582+236dup	NP_001008844.1:n.3582+236dup
NM_004415.2:c.3818dup , LRG_423t1:c.3818dup	NP_004406.2:p.Asn1273LysfsTer11
XM_011514323.1:c.3818dup	XP_011512625.1:p.Asn1273LysfsTer11
NM_001008844.2:c.3582+236dup	NP_001008844.1:n.3582+236dup
NM_001319034.1:c.3818dup	NP_001305963.1:p.Asn1273LysfsTer11
NM_004415.3:c.3818dup	NP_004406.2:p.Asn1273LysfsTer11
NM_004415.4:c.3818dup MANE Select	NP_004406.2:p.Asn1273LysfsTer11
NM_001008844.3:c.3582+236dup	NP_001008844.1:n.3582+236dup
NM_001319034.2:c.3818dup	NP_001305963.1:p.Asn1273LysfsTer11