Canonical Allele Identifier: CA2813728360

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187482_15187483insCCCCCCCCCCTACCTCC , CM000681.2:g.15187482_15187483insCCCCCCCCCCTACCTCC	GRCh38
NC_000019.9:g.15298293_15298294insCCCCCCCCCCTACCTCC , CM000681.1:g.15298293_15298294insCCCCCCCCCCTACCTCC	GRCh37
NC_000019.8:g.15159293_15159294insCCCCCCCCCCTACCTCC	NCBI36
NG_009819.1:g.18501_18502insAGGTAGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG
ENST00000263388.6:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG	ENSP00000263388.1:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG
ENST00000601011.1:c.1604-143_1604-142insAGGTAGGGGGGGGGGGG	ENSP00000473138.1:n.1604-143_1604-142insAGGTAGGGGGGGGGGGG
NM_000435.2:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG	NP_000426.2:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG
XM_005259924.3:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG	XP_005259981.1:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG
XM_005259924.4:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG	XP_005259981.1:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG
NM_000435.3:c.1607-143_1607-142insAGGTAGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-143_1607-142insAGGTAGGGGGGGGGGGG