Canonical Allele Identifier: CA3057286627

Gene: SMARCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50098960_50098962del , CM000674.2:g.50098960_50098962del	GRCh38
NC_000012.11:g.50492743_50492745del , CM000674.1:g.50492743_50492745del	GRCh37
NC_000012.10:g.48779010_48779012del	NCBI36
NG_032168.1:g.142_144del

Transcript Alleles

HGVS	Amino-acid Change
NM_003076.5:c.1508_1510del MANE Select	NP_003067.3:p.Arg503del
ENST00000394963.9:c.1508_1510del MANE Select	ENSP00000378414.4:p.Arg503del
NM_003076.4:c.1508_1510del	NP_003067.3:p.Arg503del
NM_139071.2:c.1385_1387del	NP_620710.2:p.Arg462del
NM_139071.3:c.1385_1387del	NP_620710.2:p.Arg462del
ENST00000381513.8:c.1385_1387del	ENSP00000370924.4:p.Arg462del
ENST00000394963.8:c.1508_1510del	ENSP00000378414.4:p.Arg503del
ENST00000548573.5:c.902_904del	ENSP00000448627.1:p.Arg301del
ENST00000549274.1:c.306_308del
ENST00000550280.1:n.430_432del
ENST00000551352.1:n.335_337del
XM_005269107.3:c.1385_1387del	XP_005269164.2:p.Arg462del
XM_005269107.4:c.1385_1387del	XP_005269164.2:p.Arg462del
XR_944683.1:n.1678_1680del
XR_944683.2:n.1642_1644del
XR_944684.1:n.1678_1680del
XR_944684.2:n.1642_1644del