Canonical Allele Identifier: CA2677235036

Gene: DSP

Linked Data

• gnomAD v4: 6-7583053-G-GAGAGTTAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583054_7583055insGAGTTAGATA , CM000668.2:g.7583054_7583055insGAGTTAGATA	GRCh38
NC_000006.11:g.7583287_7583288insGAGTTAGATA , CM000668.1:g.7583287_7583288insGAGTTAGATA	GRCh37
NC_000006.10:g.7528286_7528287insGAGTTAGATA	NCBI36
NG_008803.1:g.46418_46419insGAGTTAGATA , LRG_423:g.46418_46419insGAGTTAGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4463_4464insGAGTTAGATA	ENSP00000518230.1:p.Arg1489SerfsTer2
ENST00000379802.8:c.5792_5793insGAGTTAGATA MANE Select	ENSP00000369129.3:p.Arg1932SerfsTer2
ENST00000379802.7:c.5792_5793insGAGTTAGATA	ENSP00000369129.3:p.Arg1932SerfsTer2
ENST00000418664.2:c.3995_3996insGAGTTAGATA	ENSP00000396591.2:p.Arg1333SerfsTer2
NM_001008844.1:c.3995_3996insGAGTTAGATA	NP_001008844.1:p.Arg1333SerfsTer2
NM_004415.2:c.5792_5793insGAGTTAGATA , LRG_423t1:c.5792_5793insGAGTTAGATA	NP_004406.2:p.Arg1932SerfsTer2
XM_011514323.1:c.4463_4464insGAGTTAGATA	XP_011512625.1:p.Arg1489SerfsTer2
NM_001008844.2:c.3995_3996insGAGTTAGATA	NP_001008844.1:p.Arg1333SerfsTer2
NM_001319034.1:c.4463_4464insGAGTTAGATA	NP_001305963.1:p.Arg1489SerfsTer2
NM_004415.3:c.5792_5793insGAGTTAGATA	NP_004406.2:p.Arg1932SerfsTer2
NM_004415.4:c.5792_5793insGAGTTAGATA MANE Select	NP_004406.2:p.Arg1932SerfsTer2
NM_001008844.3:c.3995_3996insGAGTTAGATA	NP_001008844.1:p.Arg1333SerfsTer2
NM_001319034.2:c.4463_4464insGAGTTAGATA	NP_001305963.1:p.Arg1489SerfsTer2