Canonical Allele Identifier: CA2576654785
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186913_15186915dup , CM000681.2:g.15186913_15186915dup GRCh38
NC_000019.9:g.15297724_15297726dup , CM000681.1:g.15297724_15297726dup GRCh37
NC_000019.8:g.15158724_15158726dup NCBI36
NG_009819.1:g.19068_19070dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1915_1917dup MANE Select ENSP00000263388.1:p.Asn639_Arg640insAsn
ENST00000263388.6:c.1915_1917dup ENSP00000263388.1:p.Asn639_Arg640insAsn
ENST00000601011.1:c.1912_1914dup ENSP00000473138.1:p.Asn638_Arg639insAsn
NM_000435.2:c.1915_1917dup NP_000426.2:p.Asn639_Arg640insAsn
XM_005259924.3:c.1915_1917dup XP_005259981.1:p.Asn639_Arg640insAsn
XM_005259924.4:c.1915_1917dup XP_005259981.1:p.Asn639_Arg640insAsn
NM_000435.3:c.1915_1917dup MANE Select NP_000426.2:p.Asn639_Arg640insAsn