Canonical Allele Identifier: CA2692848416

Gene: NSMF

Linked Data

• gnomAD v4: 9-137459044-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137459046del , CM000671.2:g.137459046del	GRCh38
NC_000009.11:g.140353498del , CM000671.1:g.140353498del	GRCh37
NC_000009.10:g.139473319del	NCBI36
NG_021362.1:g.5290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265663.12:c.58del	ENSP00000265663.7:p.Ala20ArgfsTer?
ENST00000371475.9:c.58del MANE Select	ENSP00000360530.3:p.Ala20ArgfsTer?
ENST00000265663.11:c.58del	ENSP00000265663.7:p.Ala20ArgfsTer?
ENST00000371472.6:c.58del	ENSP00000360527.1:p.Ala20ArgfsTer?
ENST00000371473.7:c.58del	ENSP00000360528.3:p.Ala20ArgfsTer?
ENST00000371474.7:c.58del	ENSP00000360529.3:p.Ala20ArgfsTer?
ENST00000371475.7:c.58del	ENSP00000360530.3:p.Ala20ArgfsTer?
ENST00000437259.5:c.58del	ENSP00000412007.1:p.Ala20ArgfsTer?
NM_001130969.1:c.58del	NP_001124441.1:p.Ala20ArgfsTer?
NM_001130970.1:c.58del	NP_001124442.1:p.Ala20ArgfsTer?
NM_001130971.1:c.58del	NP_001124443.1:p.Ala20ArgfsTer?
NM_001178064.1:c.58del	NP_001171535.1:p.Ala20ArgfsTer?
NM_015537.4:c.58del	NP_056352.3:p.Ala20ArgfsTer?
XM_005266061.3:c.58del	XP_005266118.1:p.Ala20ArgfsTer?
XM_005266062.3:c.58del	XP_005266119.1:p.Ala20ArgfsTer?
XM_011518496.1:c.58del	XP_011516798.1:p.Ala20ArgfsTer?
XM_005266061.5:c.58del	XP_005266118.1:p.Ala20ArgfsTer?
XM_005266062.5:c.58del	XP_005266119.1:p.Ala20ArgfsTer?
XM_011518496.3:c.58del	XP_011516798.1:p.Ala20ArgfsTer?
NM_001130969.3:c.58del MANE Select	NP_001124441.1:p.Ala20ArgfsTer?
NM_001130970.2:c.58del	NP_001124442.1:p.Ala20ArgfsTer?
NM_001130971.2:c.58del	NP_001124443.1:p.Ala20ArgfsTer?
NM_001178064.2:c.58del	NP_001171535.1:p.Ala20ArgfsTer?
NM_015537.5:c.58del	NP_056352.3:p.Ala20ArgfsTer?