Canonical Allele Identifier: CA2639298114

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832201-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832202_63832204del , CM000679.2:g.63832202_63832204del	GRCh38
NC_000017.10:g.61909562_61909564del , CM000679.1:g.61909562_61909564del	GRCh37
NC_000017.9:g.59263294_59263296del	NCBI36
NG_053004.1:g.15788_15790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2609_2611del
ENST00000697953.1:n.3182_3184del
ENST00000698013.1:n.3294_3296del
ENST00000698014.1:n.3517_3519del
ENST00000698015.1:n.2610_2612del
ENST00000698016.1:c.*734_*736del	ENSP00000513502.1:n.*734_*736del
ENST00000698017.1:n.2684_2686del
ENST00000698018.1:n.2815_2817del
ENST00000698019.1:n.3013_3015del
ENST00000698020.1:n.2119_2121del
ENST00000698021.1:c.2028_2030del
ENST00000698022.1:c.*734_*736del	ENSP00000513504.1:n.*734_*736del
ENST00000698023.1:n.2713_2715del
ENST00000698024.1:n.2575_2577del
ENST00000698025.1:n.2735_2737del
ENST00000698026.1:n.1626_1628del
ENST00000698027.1:c.*951_*953del	ENSP00000513505.1:n.*951_*953del
ENST00000698028.1:n.2818_2820del
ENST00000448276.7:c.*734_*736del MANE Select	ENSP00000392617.2:n.*734_*736del
ENST00000448276.6:c.*734_*736del	ENSP00000392617.2:n.*734_*736del
ENST00000613943.4:c.2219_2221del	ENSP00000483605.1:n.2219_2221del
NM_001098426.1:c.*734_*736del	NP_001091896.1:n.*734_*736del
XM_005257604.2:c.*734_*736del	XP_005257661.2:n.*734_*736del
NM_001330439.1:c.*734_*736del	NP_001317368.1:n.*734_*736del
NM_001330440.1:c.*734_*736del	NP_001317369.1:n.*734_*736del
NM_001098426.2:c.*734_*736del MANE Select	NP_001091896.1:n.*734_*736del
NM_001330440.2:c.*734_*736del	NP_001317369.1:n.*734_*736del