Canonical Allele Identifier: CA2638371414

Gene: KANSL1

Linked Data

• gnomAD v4: 17-46031822-C-CCCAGGAACACTA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46031822_46031823insCCAGGAACACTA , CM000679.2:g.46031822_46031823insCCAGGAACACTA	GRCh38
NC_000017.10:g.44109188_44109189insCCAGGAACACTA , CM000679.1:g.44109188_44109189insCCAGGAACACTA	GRCh37
NC_000017.9:g.41465035_41465036insCCAGGAACACTA	NCBI36
NG_032784.1:g.198552_198553insTAGTGTTCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432791.7:c.3091-120_3091-119insTAGTGTTCCTGG MANE Select	ENSP00000387393.3:n.3091-120_3091-119insTAGTGTTCCTGG
ENST00000572904.6:c.3091-120_3091-119insTAGTGTTCCTGG	ENSP00000461484.1:n.3091-120_3091-119insTAGTGTTCCTGG
ENST00000574590.6:c.3088-120_3088-119insTAGTGTTCCTGG	ENSP00000461812.2:n.3088-120_3088-119insTAGTGTTCCTGG
ENST00000575318.6:c.2899-120_2899-119insTAGTGTTCCTGG	ENSP00000461299.1:n.2899-120_2899-119insTAGTGTTCCTGG
ENST00000638275.1:c.2899-120_2899-119insTAGTGTTCCTGG	ENSP00000492576.1:n.2899-120_2899-119insTAGTGTTCCTGG
ENST00000639805.1:n.508-120_508-119insTAGTGTTCCTGG
ENST00000648792.1:c.2959-120_2959-119insTAGTGTTCCTGG	ENSP00000497628.1:n.2959-120_2959-119insTAGTGTTCCTGG
ENST00000262419.10:c.3091-120_3091-119insTAGTGTTCCTGG	ENSP00000262419.6:n.3091-120_3091-119insTAGTGTTCCTGG
ENST00000432791.5:c.3088-120_3088-119insTAGTGTTCCTGG	ENSP00000387393.2:n.3088-120_3088-119insTAGTGTTCCTGG
ENST00000572218.5:n.7308-120_7308-119insTAGTGTTCCTGG
ENST00000572904.5:c.3091-120_3091-119insTAGTGTTCCTGG	ENSP00000461484.1:n.3091-120_3091-119insTAGTGTTCCTGG
ENST00000574590.5:c.3091-120_3091-119insTAGTGTTCCTGG	ENSP00000461812.1:n.3091-120_3091-119insTAGTGTTCCTGG
ENST00000574963.1:n.744_745insTAGTGTTCCTGG
ENST00000575318.5:c.2899-120_2899-119insTAGTGTTCCTGG	ENSP00000461299.1:n.2899-120_2899-119insTAGTGTTCCTGG
ENST00000576870.5:n.1063-120_1063-119insTAGTGTTCCTGG
NM_001193465.1:c.3088-120_3088-119insTAGTGTTCCTGG	NP_001180394.1:n.3088-120_3088-119insTAGTGTTCCTGG
NM_001193466.1:c.3091-120_3091-119insTAGTGTTCCTGG	NP_001180395.1:n.3091-120_3091-119insTAGTGTTCCTGG
NM_015443.3:c.3091-120_3091-119insTAGTGTTCCTGG	NP_056258.1:n.3091-120_3091-119insTAGTGTTCCTGG
XM_006721823.1:c.3091-120_3091-119insTAGTGTTCCTGG	XP_006721886.1:n.3091-120_3091-119insTAGTGTTCCTGG
XM_006721824.2:c.3091-120_3091-119insTAGTGTTCCTGG	XP_006721887.1:n.3091-120_3091-119insTAGTGTTCCTGG
XM_011524628.1:c.3088-120_3088-119insTAGTGTTCCTGG	XP_011522930.1:n.3088-120_3088-119insTAGTGTTCCTGG
XM_011524629.1:c.2989-120_2989-119insTAGTGTTCCTGG	XP_011522931.1:n.2989-120_2989-119insTAGTGTTCCTGG
XM_011524630.1:c.2902-120_2902-119insTAGTGTTCCTGG	XP_011522932.1:n.2902-120_2902-119insTAGTGTTCCTGG
XM_011524631.1:c.2899-120_2899-119insTAGTGTTCCTGG	XP_011522933.1:n.2899-120_2899-119insTAGTGTTCCTGG
XM_011524632.1:c.1861-120_1861-119insTAGTGTTCCTGG	XP_011522934.1:n.1861-120_1861-119insTAGTGTTCCTGG
XM_006721823.2:c.3091-120_3091-119insTAGTGTTCCTGG	XP_006721886.1:n.3091-120_3091-119insTAGTGTTCCTGG
XM_006721824.4:c.3091-120_3091-119insTAGTGTTCCTGG	XP_006721887.1:n.3091-120_3091-119insTAGTGTTCCTGG
XM_011524628.3:c.3088-120_3088-119insTAGTGTTCCTGG	XP_011522930.1:n.3088-120_3088-119insTAGTGTTCCTGG
XM_011524629.3:c.2989-120_2989-119insTAGTGTTCCTGG	XP_011522931.1:n.2989-120_2989-119insTAGTGTTCCTGG
XM_011524630.3:c.2902-120_2902-119insTAGTGTTCCTGG	XP_011522932.1:n.2902-120_2902-119insTAGTGTTCCTGG
XM_011524631.3:c.2899-120_2899-119insTAGTGTTCCTGG	XP_011522933.1:n.2899-120_2899-119insTAGTGTTCCTGG
XM_011524632.3:c.1861-120_1861-119insTAGTGTTCCTGG	XP_011522934.1:n.1861-120_1861-119insTAGTGTTCCTGG
XM_017024488.2:c.2899-120_2899-119insTAGTGTTCCTGG	XP_016879977.1:n.2899-120_2899-119insTAGTGTTCCTGG
NM_001193466.2:c.3091-120_3091-119insTAGTGTTCCTGG	NP_001180395.1:n.3091-120_3091-119insTAGTGTTCCTGG
NM_015443.4:c.3091-120_3091-119insTAGTGTTCCTGG MANE Select	NP_056258.1:n.3091-120_3091-119insTAGTGTTCCTGG
NM_001193465.2:c.3088-120_3088-119insTAGTGTTCCTGG	NP_001180394.1:n.3088-120_3088-119insTAGTGTTCCTGG
NM_001379198.1:c.3091-120_3091-119insTAGTGTTCCTGG	NP_001366127.1:n.3091-120_3091-119insTAGTGTTCCTGG