Canonical Allele Identifier: CA2262113667

Gene: KANSL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46038394_46038398delinsGACAT , CM000679.2:g.46038394_46038398delinsGACAT	GRCh38
NC_000017.10:g.44115760_44115764delinsGACAT , CM000679.1:g.44115760_44115764delinsGACAT	GRCh37
NC_000017.9:g.41471607_41471611delinsGACAT	NCBI36
NG_032784.1:g.191977_191981delinsATGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.2541+140_2541+144delinsATGTC MANE Select	ENSP00000387393.3:n.2541+140_2541+144delinsATGTC
ENST00000572904.6:c.2541+140_2541+144delinsATGTC	ENSP00000461484.1:n.2541+140_2541+144delinsATGTC
ENST00000573286.2:n.4364_4368delinsATGTC
ENST00000574590.6:c.2541+140_2541+144delinsATGTC	ENSP00000461812.2:n.2541+140_2541+144delinsATGTC
ENST00000575318.6:c.2352+140_2352+144delinsATGTC	ENSP00000461299.1:n.2352+140_2352+144delinsATGTC
ENST00000576137.2:n.538+140_538+144delinsATGTC
ENST00000638275.1:c.2352+140_2352+144delinsATGTC	ENSP00000492576.1:n.2352+140_2352+144delinsATGTC
ENST00000639150.1:c.1275+140_1275+144delinsATGTC	ENSP00000491906.1:n.1275+140_1275+144delinsATGTC
ENST00000639467.1:c.204+140_204+144delinsATGTC	ENSP00000492741.1:n.204+140_204+144delinsATGTC
ENST00000639531.1:c.2352+140_2352+144delinsATGTC	ENSP00000491765.1:n.2352+140_2352+144delinsATGTC
ENST00000640636.1:c.494+140_494+144delinsATGTC
ENST00000648792.1:c.2541+140_2541+144delinsATGTC	ENSP00000497628.1:n.2541+140_2541+144delinsATGTC
ENST00000262419.10:c.2541+140_2541+144delinsATGTC	ENSP00000262419.6:n.2541+140_2541+144delinsATGTC
ENST00000432791.5:c.2541+140_2541+144delinsATGTC	ENSP00000387393.2:n.2541+140_2541+144delinsATGTC
ENST00000572218.5:n.6758+140_6758+144delinsATGTC
ENST00000572904.5:c.2541+140_2541+144delinsATGTC	ENSP00000461484.1:n.2541+140_2541+144delinsATGTC
ENST00000573286.1:n.537_541delinsATGTC
ENST00000574590.5:c.2541+140_2541+144delinsATGTC	ENSP00000461812.1:n.2541+140_2541+144delinsATGTC
ENST00000575318.5:c.2352+140_2352+144delinsATGTC	ENSP00000461299.1:n.2352+140_2352+144delinsATGTC
ENST00000576137.1:n.180+140_180+144delinsATGTC
ENST00000576870.5:n.513+140_513+144delinsATGTC
NM_001193465.1:c.2541+140_2541+144delinsATGTC	NP_001180394.1:n.2541+140_2541+144delinsATGTC
NM_001193466.1:c.2541+140_2541+144delinsATGTC	NP_001180395.1:n.2541+140_2541+144delinsATGTC
NM_015443.3:c.2541+140_2541+144delinsATGTC	NP_056258.1:n.2541+140_2541+144delinsATGTC
XM_006721823.1:c.2541+140_2541+144delinsATGTC	XP_006721886.1:n.2541+140_2541+144delinsATGTC
XM_006721824.2:c.2541+140_2541+144delinsATGTC	XP_006721887.1:n.2541+140_2541+144delinsATGTC
XM_011524628.1:c.2541+140_2541+144delinsATGTC	XP_011522930.1:n.2541+140_2541+144delinsATGTC
XM_011524629.1:c.2439+140_2439+144delinsATGTC	XP_011522931.1:n.2439+140_2439+144delinsATGTC
XM_011524630.1:c.2352+140_2352+144delinsATGTC	XP_011522932.1:n.2352+140_2352+144delinsATGTC
XM_011524631.1:c.2352+140_2352+144delinsATGTC	XP_011522933.1:n.2352+140_2352+144delinsATGTC
XM_011524632.1:c.1311+140_1311+144delinsATGTC	XP_011522934.1:n.1311+140_1311+144delinsATGTC
XM_006721823.2:c.2541+140_2541+144delinsATGTC	XP_006721886.1:n.2541+140_2541+144delinsATGTC
XM_006721824.4:c.2541+140_2541+144delinsATGTC	XP_006721887.1:n.2541+140_2541+144delinsATGTC
XM_011524628.3:c.2541+140_2541+144delinsATGTC	XP_011522930.1:n.2541+140_2541+144delinsATGTC
XM_011524629.3:c.2439+140_2439+144delinsATGTC	XP_011522931.1:n.2439+140_2439+144delinsATGTC
XM_011524630.3:c.2352+140_2352+144delinsATGTC	XP_011522932.1:n.2352+140_2352+144delinsATGTC
XM_011524631.3:c.2352+140_2352+144delinsATGTC	XP_011522933.1:n.2352+140_2352+144delinsATGTC
XM_011524632.3:c.1311+140_1311+144delinsATGTC	XP_011522934.1:n.1311+140_1311+144delinsATGTC
XM_017024488.2:c.2352+140_2352+144delinsATGTC	XP_016879977.1:n.2352+140_2352+144delinsATGTC
XM_017024489.1:c.2579_2583delinsATGTC	XP_016879978.1:p.Tyr860=
NM_001193466.2:c.2541+140_2541+144delinsATGTC	NP_001180395.1:n.2541+140_2541+144delinsATGTC
NM_015443.4:c.2541+140_2541+144delinsATGTC MANE Select	NP_056258.1:n.2541+140_2541+144delinsATGTC
NM_001193465.2:c.2541+140_2541+144delinsATGTC	NP_001180394.1:n.2541+140_2541+144delinsATGTC
NM_001379198.1:c.2541+140_2541+144delinsATGTC	NP_001366127.1:n.2541+140_2541+144delinsATGTC