Canonical Allele Identifier: CA566373248

Gene: NOTCH4

Linked Data

• dbSNP Id: rs1209793978
• gnomAD v2: 6-32170704-CAG-C
• gnomAD v3: 6-32202927-CAG-C
• gnomAD v4: 6-32202927-CAG-C
• MyVariant Identifiers: chr6:g.32170705_32170706del (hg19) ; chr6:g.32202928_32202929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32202930_32202931del , CM000668.2:g.32202930_32202931del	GRCh38
NC_000006.11:g.32170707_32170708del , CM000668.1:g.32170707_32170708del	GRCh37
NC_000006.10:g.32278685_32278686del	NCBI36
NG_028190.1:g.26139_26140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.3232-330_3232-329del MANE Select	ENSP00000364163.3:n.3232-330_3232-329del
ENST00000474612.1:n.988_989del
NM_004557.3:c.3232-330_3232-329del	NP_004548.3:n.3232-330_3232-329del
NR_134949.1:n.3472+841_3472+842del
NR_134950.1:n.3370+841_3370+842del
NM_004557.4:c.3232-330_3232-329del MANE Select	NP_004548.3:n.3232-330_3232-329del
NR_134949.2:n.3472+841_3472+842del
NR_134950.2:n.3370+841_3370+842del