Canonical Allele Identifier: CA2810124096
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832085_63832096del , CM000679.2:g.63832085_63832096del GRCh38
NC_000017.10:g.61909445_61909456del , CM000679.1:g.61909445_61909456del GRCh37
NC_000017.9:g.59263177_59263188del NCBI36
NG_053004.1:g.15898_15909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000448276.7:c.*844_*855del MANE Select ENSP00000392617.2:n.*844_*855del
ENST00000613943.4:c.2329_2340del ENSP00000483605.1:n.2329_2340del
NM_001098426.1:c.*844_*855del NP_001091896.1:n.*844_*855del
XM_005257604.2:c.*844_*855del XP_005257661.2:n.*844_*855del
NM_001330439.1:c.*844_*855del NP_001317368.1:n.*844_*855del
NM_001330440.1:c.*844_*855del NP_001317369.1:n.*844_*855del
NM_001098426.2:c.*844_*855del MANE Select NP_001091896.1:n.*844_*855del
NM_001330440.2:c.*844_*855del NP_001317369.1:n.*844_*855del