Canonical Allele Identifier: CA2637651550

Gene: GSDMB

Linked Data

• gnomAD v4: 17-39906112-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39906114_39906115del , CM000679.2:g.39906114_39906115del	GRCh38
NC_000017.10:g.38062367_38062368del , CM000679.1:g.38062367_38062368del	GRCh37
NC_000017.9:g.35315893_35315894del	NCBI36
NG_015804.1:g.17537_17538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.885_886del MANE Select	ENSP00000415049.1:p.Arg296SerfsTer3
ENST00000309481.11:c.846_847del	ENSP00000312584.7:p.Arg283SerfsTer3
ENST00000360317.7:c.885_886del	ENSP00000353465.3:p.Arg296SerfsTer3
ENST00000394175.6:c.819_820del	ENSP00000377729.2:p.Arg274SerfsTer3
ENST00000394179.5:c.846_847del	ENSP00000377733.2:p.Arg283SerfsTer3
ENST00000418519.5:c.885_886del	ENSP00000415049.1:p.Arg296SerfsTer3
ENST00000468820.1:c.345_346del
ENST00000477054.6:n.4073_4074del
ENST00000479136.5:n.1626_1627del
ENST00000520542.5:c.858_859del	ENSP00000430157.1:p.Arg287SerfsTer3
ENST00000522564.5:c.592_593del	ENSP00000428217.1:n.592_593del
ENST00000523371.5:c.761_762del	ENSP00000429265.1:n.761_762del
ENST00000524039.5:c.734_735del	ENSP00000428712.1:n.734_735del
NM_001042471.1:c.846_847del	NP_001035936.1:p.Arg283SerfsTer3
NM_001165958.1:c.885_886del	NP_001159430.1:p.Arg296SerfsTer3
NM_001165959.1:c.858_859del	NP_001159431.1:p.Arg287SerfsTer3
NM_018530.2:c.819_820del	NP_061000.2:p.Arg274SerfsTer3
XM_011525001.1:c.897_898del	XP_011523303.1:p.Arg300SerfsTer3
XM_011525002.1:c.897_898del	XP_011523304.1:p.Arg300SerfsTer3
XM_011525003.1:c.897_898del	XP_011523305.1:p.Arg300SerfsTer3
XM_011525004.1:c.897_898del	XP_011523306.1:p.Arg300SerfsTer3
XM_011525005.1:c.897_898del	XP_011523307.1:p.Arg300SerfsTer3
XM_011525006.1:c.897_898del	XP_011523308.1:p.Arg300SerfsTer3
XM_011525007.1:c.897_898del	XP_011523309.1:p.Arg300SerfsTer3
XM_011525008.1:c.897_898del	XP_011523310.1:p.Arg300SerfsTer3
XM_011525009.1:c.897_898del	XP_011523311.1:p.Arg300SerfsTer3
XM_011525010.1:c.897_898del	XP_011523312.1:p.Arg300SerfsTer3
XM_011525011.1:c.897_898del	XP_011523313.1:p.Arg300SerfsTer3
XM_011525012.1:c.897_898del	XP_011523314.1:p.Arg300SerfsTer3
XM_011525013.1:c.897_898del	XP_011523315.1:p.Arg300SerfsTer3
XM_011525014.1:c.897_898del	XP_011523316.1:p.Arg300SerfsTer3
XM_011525015.1:c.897_898del	XP_011523317.1:p.Arg300SerfsTer3
XM_011525016.1:c.885_886del	XP_011523318.1:p.Arg296SerfsTer3
XM_011525017.1:c.870_871del	XP_011523319.1:p.Arg291SerfsTer3
XM_011525018.1:c.858_859del	XP_011523320.1:p.Arg287SerfsTer3
XM_011525019.1:c.846_847del	XP_011523321.1:p.Arg283SerfsTer3
XM_011525020.1:c.819_820del	XP_011523322.1:p.Arg274SerfsTer3
XR_934504.1:n.2458_2459del
NM_001369402.1:c.846_847del	NP_001356331.1:p.Arg283SerfsTer3
NM_001042471.2:c.846_847del	NP_001035936.1:p.Arg283SerfsTer3
NM_001165958.2:c.885_886del MANE Select	NP_001159430.1:p.Arg296SerfsTer3
NM_001165959.2:c.858_859del	NP_001159431.1:p.Arg287SerfsTer3
NM_001369402.2:c.846_847del	NP_001356331.1:p.Arg283SerfsTer3
NM_001388420.1:c.885_886del	NP_001375349.1:p.Arg296SerfsTer3
NM_001388421.1:c.858_859del	NP_001375350.1:p.Arg287SerfsTer3
NM_001388422.1:c.846_847del	NP_001375351.1:p.Arg283SerfsTer3
NM_001388423.1:c.819_820del	NP_001375352.1:p.Arg274SerfsTer3
NM_001388424.1:c.577-129_577-128del	NP_001375353.1:n.577-129_577-128del
NM_018530.3:c.819_820del	NP_061000.2:p.Arg274SerfsTer3
NR_170970.1:n.979_980del
NR_170971.1:n.2080_2081del
NR_170972.1:n.1996_1997del
NR_170973.1:n.2191_2192del
NR_170974.1:n.2053_2054del