Canonical Allele Identifier: CA2638372167

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46032115-CCCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46032116_46032119del , CM000679.2:g.46032116_46032119del	GRCh38
NC_000017.10:g.44109482_44109485del , CM000679.1:g.44109482_44109485del	GRCh37
NC_000017.9:g.41465329_41465332del	NCBI36
NG_032784.1:g.198256_198259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3018_3021del MANE Select	ENSP00000387393.3:p.Arg1007ThrfsTer6
ENST00000572904.6:c.3018_3021del	ENSP00000461484.1:p.Arg1007ThrfsTer6
ENST00000574590.6:c.3015_3018del	ENSP00000461812.2:p.Arg1006ThrfsTer6
ENST00000575318.6:c.2826_2829del	ENSP00000461299.1:p.Arg943ThrfsTer6
ENST00000638275.1:c.2826_2829del	ENSP00000492576.1:p.Arg943ThrfsTer6
ENST00000639805.1:n.435_438del
ENST00000648792.1:c.2886_2889del	ENSP00000497628.1:p.Arg963ThrfsTer6
ENST00000262419.10:c.3018_3021del	ENSP00000262419.6:p.Arg1007ThrfsTer6
ENST00000432791.5:c.3015_3018del	ENSP00000387393.2:p.Arg1006ThrfsTer6
ENST00000572218.5:n.7235_7238del
ENST00000572904.5:c.3018_3021del	ENSP00000461484.1:p.Arg1007ThrfsTer6
ENST00000574590.5:c.3018_3021del	ENSP00000461812.1:p.Arg1007ThrfsTer6
ENST00000574963.1:n.448_451del
ENST00000575318.5:c.2826_2829del	ENSP00000461299.1:p.Arg943ThrfsTer6
ENST00000576870.5:n.990_993del
NM_001193465.1:c.3015_3018del	NP_001180394.1:p.Arg1006ThrfsTer6
NM_001193466.1:c.3018_3021del	NP_001180395.1:p.Arg1007ThrfsTer6
NM_015443.3:c.3018_3021del	NP_056258.1:p.Arg1007ThrfsTer6
XM_006721823.1:c.3018_3021del	XP_006721886.1:p.Arg1007ThrfsTer6
XM_006721824.2:c.3018_3021del	XP_006721887.1:p.Arg1007ThrfsTer6
XM_011524628.1:c.3015_3018del	XP_011522930.1:p.Arg1006ThrfsTer6
XM_011524629.1:c.2916_2919del	XP_011522931.1:p.Arg973ThrfsTer6
XM_011524630.1:c.2829_2832del	XP_011522932.1:p.Arg944ThrfsTer6
XM_011524631.1:c.2826_2829del	XP_011522933.1:p.Arg943ThrfsTer6
XM_011524632.1:c.1788_1791del	XP_011522934.1:p.Arg597ThrfsTer6
XM_006721823.2:c.3018_3021del	XP_006721886.1:p.Arg1007ThrfsTer6
XM_006721824.4:c.3018_3021del	XP_006721887.1:p.Arg1007ThrfsTer6
XM_011524628.3:c.3015_3018del	XP_011522930.1:p.Arg1006ThrfsTer6
XM_011524629.3:c.2916_2919del	XP_011522931.1:p.Arg973ThrfsTer6
XM_011524630.3:c.2829_2832del	XP_011522932.1:p.Arg944ThrfsTer6
XM_011524631.3:c.2826_2829del	XP_011522933.1:p.Arg943ThrfsTer6
XM_011524632.3:c.1788_1791del	XP_011522934.1:p.Arg597ThrfsTer6
XM_017024488.2:c.2826_2829del	XP_016879977.1:p.Arg943ThrfsTer6
NM_001193466.2:c.3018_3021del	NP_001180395.1:p.Arg1007ThrfsTer6
NM_015443.4:c.3018_3021del MANE Select	NP_056258.1:p.Arg1007ThrfsTer6
NM_001193465.2:c.3015_3018del	NP_001180394.1:p.Arg1006ThrfsTer6
NM_001379198.1:c.3018_3021del	NP_001366127.1:p.Arg1007ThrfsTer6