Canonical Allele Identifier: CA2259304767

Gene: GSDMB

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39905861_39905862delinsAG , CM000679.2:g.39905861_39905862delinsAG	GRCh38
NC_000017.10:g.38062114_38062115delinsAG , CM000679.1:g.38062114_38062115delinsAG	GRCh37
NC_000017.9:g.35315640_35315641delinsAG	NCBI36
NG_015804.1:g.17789_17790delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418519.6:c.1012_1013delinsCT MANE Select	ENSP00000415049.1:p.Leu338=
ENST00000309481.11:c.973_974delinsCT	ENSP00000312584.7:p.Leu325=
ENST00000360317.7:c.1012_1013delinsCT	ENSP00000353465.3:p.Leu338=
ENST00000394175.6:c.946_947delinsCT	ENSP00000377729.2:p.Leu316=
ENST00000394179.5:c.973_974delinsCT	ENSP00000377733.2:p.Leu325=
ENST00000418519.5:c.1012_1013delinsCT	ENSP00000415049.1:p.Leu338=
ENST00000477054.6:n.4200_4201delinsCT
ENST00000479136.5:n.1753_1754delinsCT
ENST00000486560.1:n.77_78delinsCT
ENST00000520542.5:c.985_986delinsCT	ENSP00000430157.1:p.Leu329=
ENST00000522564.5:c.719_720delinsCT	ENSP00000428217.1:n.719_720delinsCT
ENST00000523371.5:c.888_889delinsCT	ENSP00000429265.1:n.888_889delinsCT
ENST00000524039.5:c.861_862delinsCT	ENSP00000428712.1:n.861_862delinsCT
NM_001042471.1:c.973_974delinsCT	NP_001035936.1:p.Leu325=
NM_001165958.1:c.1012_1013delinsCT	NP_001159430.1:p.Leu338=
NM_001165959.1:c.985_986delinsCT	NP_001159431.1:p.Leu329=
NM_018530.2:c.946_947delinsCT	NP_061000.2:p.Leu316=
XM_011525001.1:c.1024_1025delinsCT	XP_011523303.1:p.Leu342=
XM_011525002.1:c.1024_1025delinsCT	XP_011523304.1:p.Leu342=
XM_011525003.1:c.1024_1025delinsCT	XP_011523305.1:p.Leu342=
XM_011525004.1:c.1024_1025delinsCT	XP_011523306.1:p.Leu342=
XM_011525005.1:c.1024_1025delinsCT	XP_011523307.1:p.Leu342=
XM_011525006.1:c.1024_1025delinsCT	XP_011523308.1:p.Leu342=
XM_011525007.1:c.1024_1025delinsCT	XP_011523309.1:p.Leu342=
XM_011525008.1:c.1024_1025delinsCT	XP_011523310.1:p.Leu342=
XM_011525009.1:c.1024_1025delinsCT	XP_011523311.1:p.Leu342=
XM_011525010.1:c.1024_1025delinsCT	XP_011523312.1:p.Leu342=
XM_011525011.1:c.1024_1025delinsCT	XP_011523313.1:p.Leu342=
XM_011525012.1:c.1024_1025delinsCT	XP_011523314.1:p.Leu342=
XM_011525013.1:c.1024_1025delinsCT	XP_011523315.1:p.Leu342=
XM_011525014.1:c.1024_1025delinsCT	XP_011523316.1:p.Leu342=
XM_011525015.1:c.1024_1025delinsCT	XP_011523317.1:p.Leu342=
XM_011525016.1:c.1012_1013delinsCT	XP_011523318.1:p.Leu338=
XM_011525017.1:c.997_998delinsCT	XP_011523319.1:p.Leu333=
XM_011525018.1:c.985_986delinsCT	XP_011523320.1:p.Leu329=
XM_011525019.1:c.973_974delinsCT	XP_011523321.1:p.Leu325=
XM_011525020.1:c.946_947delinsCT	XP_011523322.1:p.Leu316=
XR_934504.1:n.2585_2586delinsCT
NM_001369402.1:c.973_974delinsCT	NP_001356331.1:p.Leu325=
NM_001042471.2:c.973_974delinsCT	NP_001035936.1:p.Leu325=
NM_001165958.2:c.1012_1013delinsCT MANE Select	NP_001159430.1:p.Leu338=
NM_001165959.2:c.985_986delinsCT	NP_001159431.1:p.Leu329=
NM_001369402.2:c.973_974delinsCT	NP_001356331.1:p.Leu325=
NM_001388420.1:c.1012_1013delinsCT	NP_001375349.1:p.Leu338=
NM_001388421.1:c.985_986delinsCT	NP_001375350.1:p.Leu329=
NM_001388422.1:c.973_974delinsCT	NP_001375351.1:p.Leu325=
NM_001388423.1:c.946_947delinsCT	NP_001375352.1:p.Leu316=
NM_001388424.1:c.700_701delinsCT	NP_001375353.1:p.Leu234=
NM_018530.3:c.946_947delinsCT	NP_061000.2:p.Leu316=
NR_170970.1:n.1106_1107delinsCT
NR_170971.1:n.2207_2208delinsCT
NR_170972.1:n.2123_2124delinsCT
NR_170973.1:n.2318_2319delinsCT
NR_170974.1:n.2180_2181delinsCT