Canonical Allele Identifier: CA136900248

Gene: NOTCH4

Linked Data

• dbSNP Id: rs892532714
• gnomAD v2: 6-32170677-ATAT-A
• gnomAD v3: 6-32202900-ATAT-A
• gnomAD v4: 6-32202900-ATAT-A
• MyVariant Identifiers: chr6:g.32170678_32170680del (hg19) ; chr6:g.32202901_32202903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32202917_32202919del , CM000668.2:g.32202917_32202919del	GRCh38
NC_000006.11:g.32170694_32170696del , CM000668.1:g.32170694_32170696del	GRCh37
NC_000006.10:g.32278672_32278674del	NCBI36
NG_028190.1:g.26165_26167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.3232-304_3232-302del MANE Select	ENSP00000364163.3:n.3232-304_3232-302del
ENST00000474612.1:n.1014_1016del
NM_004557.3:c.3232-304_3232-302del	NP_004548.3:n.3232-304_3232-302del
NR_134949.1:n.3472+867_3472+869del
NR_134950.1:n.3370+867_3370+869del
NM_004557.4:c.3232-304_3232-302del MANE Select	NP_004548.3:n.3232-304_3232-302del
NR_134949.2:n.3472+867_3472+869del
NR_134950.2:n.3370+867_3370+869del