Canonical Allele Identifier: CA2810124245

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837542_63837543insCATTTAAAACATACTG , CM000679.2:g.63837542_63837543insCATTTAAAACATACTG	GRCh38
NC_000017.10:g.61914902_61914903insCATTTAAAACATACTG , CM000679.1:g.61914902_61914903insCATTTAAAACATACTG	GRCh37
NC_000017.9:g.59268634_59268635insCATTTAAAACATACTG	NCBI36
NG_053004.1:g.10449_10450insCAGTATGTTTTAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.187_188insCAGTATGTTTTAAATG
ENST00000698016.1:c.158_159insCAGTATGTTTTAAATG	ENSP00000513502.1:p.Ala54SerfsTer4
ENST00000698022.1:c.116_117insCAGTATGTTTTAAATG	ENSP00000513504.1:p.Ala40SerfsTer4
ENST00000698027.1:c.158_159insCAGTATGTTTTAAATG	ENSP00000513505.1:p.Ala54SerfsTer4
ENST00000448276.7:c.299_300insCAGTATGTTTTAAATG MANE Select	ENSP00000392617.2:p.Ala101SerfsTer4
ENST00000225742.13:c.74_75insCAGTATGTTTTAAATG	ENSP00000225742.9:p.Ala26SerfsTer4
ENST00000323347.14:c.155_156insCAGTATGTTTTAAATG	ENSP00000318451.10:p.Ala53SerfsTer4
ENST00000448276.6:c.299_300insCAGTATGTTTTAAATG	ENSP00000392617.2:p.Ala101SerfsTer4
ENST00000577686.1:n.53-306_53-305insCAGTATGTTTTAAATG
ENST00000580054.1:c.83_84insCAGTATGTTTTAAATG	ENSP00000463793.1:p.Ala29SerfsTer4
ENST00000584400.5:c.217-306_217-305insCAGTATGTTTTAAATG	ENSP00000464503.1:n.217-306_217-305insCAGTATGTTTTAAATG
ENST00000613943.4:c.188_189insCAGTATGTTTTAAATG	ENSP00000483605.1:p.Ala64SerfsTer4
NM_001098426.1:c.299_300insCAGTATGTTTTAAATG	NP_001091896.1:p.Ala101SerfsTer4
XM_005257604.2:c.74_75insCAGTATGTTTTAAATG	XP_005257661.2:p.Ala26SerfsTer4
NM_001330439.1:c.74_75insCAGTATGTTTTAAATG	NP_001317368.1:p.Ala26SerfsTer4
NM_001330440.1:c.155_156insCAGTATGTTTTAAATG	NP_001317369.1:p.Ala53SerfsTer4
NM_001098426.2:c.299_300insCAGTATGTTTTAAATG MANE Select	NP_001091896.1:p.Ala101SerfsTer4
NM_001330440.2:c.155_156insCAGTATGTTTTAAATG	NP_001317369.1:p.Ala53SerfsTer4