Canonical Allele Identifier: CA2638370768

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46031545-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031545_46031546insC , CM000679.2:g.46031545_46031546insC	GRCh38
NC_000017.10:g.44108911_44108912insC , CM000679.1:g.44108911_44108912insC	GRCh37
NC_000017.9:g.41464758_41464759insC	NCBI36
NG_032784.1:g.198829_198830insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3248_3249insG MANE Select	ENSP00000387393.3:p.Pro1084SerfsTer?
ENST00000572904.6:c.3248_3249insG	ENSP00000461484.1:p.Pro1084SerfsTer?
ENST00000574590.6:c.3245_3246insG	ENSP00000461812.2:p.Pro1083SerfsTer?
ENST00000575318.6:c.3056_3057insG	ENSP00000461299.1:p.Pro1020SerfsTer?
ENST00000638275.1:c.3056_3057insG	ENSP00000492576.1:p.Pro1020SerfsTer?
ENST00000648792.1:c.3116_3117insG	ENSP00000497628.1:p.Pro1040SerfsTer?
ENST00000262419.10:c.3248_3249insG	ENSP00000262419.6:p.Pro1084SerfsTer?
ENST00000432791.5:c.3245_3246insG	ENSP00000387393.2:p.Pro1083SerfsTer?
ENST00000572218.5:n.7465_7466insG
ENST00000572904.5:c.3248_3249insG	ENSP00000461484.1:p.Pro1084SerfsTer?
ENST00000574590.5:c.3248_3249insG	ENSP00000461812.1:p.Pro1084SerfsTer?
ENST00000574963.1:n.1021_1022insG
ENST00000575318.5:c.3056_3057insG	ENSP00000461299.1:p.Pro1020SerfsTer?
ENST00000576870.5:n.1220_1221insG
NM_001193465.1:c.3245_3246insG	NP_001180394.1:p.Pro1083SerfsTer?
NM_001193466.1:c.3248_3249insG	NP_001180395.1:p.Pro1084SerfsTer?
NM_015443.3:c.3248_3249insG	NP_056258.1:p.Pro1084SerfsTer?
XM_006721823.1:c.3248_3249insG	XP_006721886.1:p.Pro1084SerfsTer?
XM_006721824.2:c.3248_3249insG	XP_006721887.1:p.Pro1084SerfsTer?
XM_011524628.1:c.3245_3246insG	XP_011522930.1:p.Pro1083SerfsTer?
XM_011524629.1:c.3146_3147insG	XP_011522931.1:p.Pro1050SerfsTer?
XM_011524630.1:c.3059_3060insG	XP_011522932.1:p.Pro1021SerfsTer?
XM_011524631.1:c.3056_3057insG	XP_011522933.1:p.Pro1020SerfsTer?
XM_011524632.1:c.2018_2019insG	XP_011522934.1:p.Pro674SerfsTer?
XM_006721823.2:c.3248_3249insG	XP_006721886.1:p.Pro1084SerfsTer?
XM_006721824.4:c.3248_3249insG	XP_006721887.1:p.Pro1084SerfsTer?
XM_011524628.3:c.3245_3246insG	XP_011522930.1:p.Pro1083SerfsTer?
XM_011524629.3:c.3146_3147insG	XP_011522931.1:p.Pro1050SerfsTer?
XM_011524630.3:c.3059_3060insG	XP_011522932.1:p.Pro1021SerfsTer?
XM_011524631.3:c.3056_3057insG	XP_011522933.1:p.Pro1020SerfsTer?
XM_011524632.3:c.2018_2019insG	XP_011522934.1:p.Pro674SerfsTer?
XM_017024488.2:c.3056_3057insG	XP_016879977.1:p.Pro1020SerfsTer?
NM_001193466.2:c.3248_3249insG	NP_001180395.1:p.Pro1084SerfsTer?
NM_015443.4:c.3248_3249insG MANE Select	NP_056258.1:p.Pro1084SerfsTer?
NM_001193465.2:c.3245_3246insG	NP_001180394.1:p.Pro1083SerfsTer?
NM_001379198.1:c.3248_3249insG	NP_001366127.1:p.Pro1084SerfsTer?