Canonical Allele Identifier: CA2270105532

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837439_63837440delinsAC , CM000679.2:g.63837439_63837440delinsAC	GRCh38
NC_000017.10:g.61914799_61914800delinsAC , CM000679.1:g.61914799_61914800delinsAC	GRCh37
NC_000017.9:g.59268531_59268532delinsAC	NCBI36
NG_053004.1:g.10552_10553delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.290_291delinsGT
ENST00000698015.1:n.35+1_35+2delinsGT
ENST00000698016.1:c.260+1_260+2delinsGT	ENSP00000513502.1:n.260+1_260+2delinsGT
ENST00000698021.1:c.64+1_64+2delinsGT
ENST00000698022.1:c.218+1_218+2delinsGT	ENSP00000513504.1:n.218+1_218+2delinsGT
ENST00000698027.1:c.260+1_260+2delinsGT	ENSP00000513505.1:n.260+1_260+2delinsGT
ENST00000448276.7:c.401+1_401+2delinsGT MANE Select	ENSP00000392617.2:n.401+1_401+2delinsGT
ENST00000225742.13:c.176+1_176+2delinsGT	ENSP00000225742.9:n.176+1_176+2delinsGT
ENST00000323347.14:c.257+1_257+2delinsGT	ENSP00000318451.10:n.257+1_257+2delinsGT
ENST00000448276.6:c.401+1_401+2delinsGT	ENSP00000392617.2:n.401+1_401+2delinsGT
ENST00000577686.1:n.53-203_53-202delinsGT
ENST00000580054.1:c.185+1_185+2delinsGT	ENSP00000463793.1:n.185+1_185+2delinsGT
ENST00000584400.5:c.217-203_217-202delinsGT	ENSP00000464503.1:n.217-203_217-202delins...
ENST00000613943.4:c.290+1_290+2delinsGT	ENSP00000483605.1:n.290+1_290+2delinsGT
NM_001098426.1:c.401+1_401+2delinsGT	NP_001091896.1:n.401+1_401+2delinsGT
XM_005257604.2:c.176+1_176+2delinsGT	XP_005257661.2:n.176+1_176+2delinsGT
NM_001330439.1:c.176+1_176+2delinsGT	NP_001317368.1:n.176+1_176+2delinsGT
NM_001330440.1:c.257+1_257+2delinsGT	NP_001317369.1:n.257+1_257+2delinsGT
NM_001098426.2:c.401+1_401+2delinsGT MANE Select	NP_001091896.1:n.401+1_401+2delinsGT
NM_001330440.2:c.257+1_257+2delinsGT	NP_001317369.1:n.257+1_257+2delinsGT