Canonical Allele Identifier: CA2638370723

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46031527-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031528_46031529del , CM000679.2:g.46031528_46031529del	GRCh38
NC_000017.10:g.44108894_44108895del , CM000679.1:g.44108894_44108895del	GRCh37
NC_000017.9:g.41464741_41464742del	NCBI36
NG_032784.1:g.198846_198847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3265_3266del MANE Select	ENSP00000387393.3:p.Lys1089GlufsTer28
ENST00000572904.6:c.3265_3266del	ENSP00000461484.1:p.Lys1089GlufsTer28
ENST00000574590.6:c.3262_3263del	ENSP00000461812.2:p.Lys1088GlufsTer28
ENST00000575318.6:c.3073_3074del	ENSP00000461299.1:p.Lys1025GlufsTer28
ENST00000638275.1:c.3073_3074del	ENSP00000492576.1:p.Lys1025GlufsTer28
ENST00000648792.1:c.3133_3134del	ENSP00000497628.1:p.Lys1045GlufsTer28
ENST00000262419.10:c.3265_3266del	ENSP00000262419.6:p.Lys1089GlufsTer28
ENST00000432791.5:c.3262_3263del	ENSP00000387393.2:p.Lys1088GlufsTer28
ENST00000572218.5:n.7482_7483del
ENST00000572904.5:c.3265_3266del	ENSP00000461484.1:p.Lys1089GlufsTer28
ENST00000574590.5:c.3265_3266del	ENSP00000461812.1:p.Lys1089GlufsTer28
ENST00000574963.1:n.1038_1039del
ENST00000575318.5:c.3073_3074del	ENSP00000461299.1:p.Lys1025GlufsTer28
ENST00000576870.5:n.1237_1238del
NM_001193465.1:c.3262_3263del	NP_001180394.1:p.Lys1088GlufsTer28
NM_001193466.1:c.3265_3266del	NP_001180395.1:p.Lys1089GlufsTer28
NM_015443.3:c.3265_3266del	NP_056258.1:p.Lys1089GlufsTer28
XM_006721823.1:c.3265_3266del	XP_006721886.1:p.Lys1089GlufsTer28
XM_006721824.2:c.3265_3266del	XP_006721887.1:p.Lys1089GlufsTer28
XM_011524628.1:c.3262_3263del	XP_011522930.1:p.Lys1088GlufsTer28
XM_011524629.1:c.3163_3164del	XP_011522931.1:p.Lys1055GlufsTer28
XM_011524630.1:c.3076_3077del	XP_011522932.1:p.Lys1026GlufsTer28
XM_011524631.1:c.3073_3074del	XP_011522933.1:p.Lys1025GlufsTer28
XM_011524632.1:c.2035_2036del	XP_011522934.1:p.Lys679GlufsTer28
XM_006721823.2:c.3265_3266del	XP_006721886.1:p.Lys1089GlufsTer28
XM_006721824.4:c.3265_3266del	XP_006721887.1:p.Lys1089GlufsTer28
XM_011524628.3:c.3262_3263del	XP_011522930.1:p.Lys1088GlufsTer28
XM_011524629.3:c.3163_3164del	XP_011522931.1:p.Lys1055GlufsTer28
XM_011524630.3:c.3076_3077del	XP_011522932.1:p.Lys1026GlufsTer28
XM_011524631.3:c.3073_3074del	XP_011522933.1:p.Lys1025GlufsTer28
XM_011524632.3:c.2035_2036del	XP_011522934.1:p.Lys679GlufsTer28
XM_017024488.2:c.3073_3074del	XP_016879977.1:p.Lys1025GlufsTer28
NM_001193466.2:c.3265_3266del	NP_001180395.1:p.Lys1089GlufsTer28
NM_015443.4:c.3265_3266del MANE Select	NP_056258.1:p.Lys1089GlufsTer28
NM_001193465.2:c.3262_3263del	NP_001180394.1:p.Lys1088GlufsTer28
NM_001379198.1:c.3265_3266del	NP_001366127.1:p.Lys1089GlufsTer28