Canonical Allele Identifier: CA2739290994

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46039096_46039105del , CM000679.2:g.46039096_46039105del	GRCh38
NC_000017.10:g.44116462_44116471del , CM000679.1:g.44116462_44116471del	GRCh37
NC_000017.9:g.41472309_41472318del	NCBI36
NG_032784.1:g.191271_191280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432791.7:c.2315_2324del MANE Select	ENSP00000387393.3:p.Leu772HisfsTer12
ENST00000572904.6:c.2315_2324del	ENSP00000461484.1:p.Leu772HisfsTer12
ENST00000573286.2:n.3998_4007del
ENST00000574590.6:c.2315_2324del	ENSP00000461812.2:p.Leu772HisfsTer12
ENST00000575318.6:c.2204-418_2204-409del	ENSP00000461299.1:n.2204-418_2204-409del
ENST00000638275.1:c.2204-418_2204-409del	ENSP00000492576.1:n.2204-418_2204-409del
ENST00000639150.1:c.1049_1058del	ENSP00000491906.1:p.Leu350HisfsTer12
ENST00000639531.1:c.2204-418_2204-409del	ENSP00000491765.1:n.2204-418_2204-409del
ENST00000639853.1:c.1375-418_1375-409del
ENST00000640636.1:c.346-418_346-409del
ENST00000648792.1:c.2315_2324del	ENSP00000497628.1:p.Leu772HisfsTer12
ENST00000262419.10:c.2315_2324del	ENSP00000262419.6:p.Leu772HisfsTer12
ENST00000432791.5:c.2315_2324del	ENSP00000387393.2:p.Leu772HisfsTer12
ENST00000572218.5:n.6532_6541del
ENST00000572679.1:n.447_456del
ENST00000572904.5:c.2315_2324del	ENSP00000461484.1:p.Leu772HisfsTer12
ENST00000573286.1:n.171_180del
ENST00000574590.5:c.2315_2324del	ENSP00000461812.1:p.Leu772HisfsTer12
ENST00000575318.5:c.2204-418_2204-409del	ENSP00000461299.1:n.2204-418_2204-409del
ENST00000576870.5:n.365-418_365-409del
NM_001193465.1:c.2315_2324del	NP_001180394.1:p.Leu772HisfsTer12
NM_001193466.1:c.2315_2324del	NP_001180395.1:p.Leu772HisfsTer12
NM_015443.3:c.2315_2324del	NP_056258.1:p.Leu772HisfsTer12
XM_006721823.1:c.2315_2324del	XP_006721886.1:p.Leu772HisfsTer12
XM_006721824.2:c.2315_2324del	XP_006721887.1:p.Leu772HisfsTer12
XM_011524628.1:c.2315_2324del	XP_011522930.1:p.Leu772HisfsTer12
XM_011524629.1:c.2213_2222del	XP_011522931.1:p.Leu738HisfsTer12
XM_011524630.1:c.2204-418_2204-409del	XP_011522932.1:n.2204-418_2204-409del
XM_011524631.1:c.2204-418_2204-409del	XP_011522933.1:n.2204-418_2204-409del
XM_011524632.1:c.1085_1094del	XP_011522934.1:p.Leu362HisfsTer12
XM_006721823.2:c.2315_2324del	XP_006721886.1:p.Leu772HisfsTer12
XM_006721824.4:c.2315_2324del	XP_006721887.1:p.Leu772HisfsTer12
XM_011524628.3:c.2315_2324del	XP_011522930.1:p.Leu772HisfsTer12
XM_011524629.3:c.2213_2222del	XP_011522931.1:p.Leu738HisfsTer12
XM_011524630.3:c.2204-418_2204-409del	XP_011522932.1:n.2204-418_2204-409del
XM_011524631.3:c.2204-418_2204-409del	XP_011522933.1:n.2204-418_2204-409del
XM_011524632.3:c.1085_1094del	XP_011522934.1:p.Leu362HisfsTer12
XM_017024488.2:c.2204-418_2204-409del	XP_016879977.1:n.2204-418_2204-409del
XM_017024489.1:c.2213_2222del	XP_016879978.1:p.Leu738HisfsTer12
NM_001193466.2:c.2315_2324del	NP_001180395.1:p.Leu772HisfsTer12
NM_015443.4:c.2315_2324del MANE Select	NP_056258.1:p.Leu772HisfsTer12
NM_001193465.2:c.2315_2324del	NP_001180394.1:p.Leu772HisfsTer12
NM_001379198.1:c.2315_2324del	NP_001366127.1:p.Leu772HisfsTer12