Canonical Allele Identifier: CA713423428

Gene: SHC4

Linked Data

• dbSNP Id: rs1438630139
• gnomAD v3: 15-48929301-ACTT-A
• gnomAD v4: 15-48929301-ACTT-A
• MyVariant Identifiers: chr15:g.49221499_49221501del (hg19) ; chr15:g.48929302_48929304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48929304_48929306del , CM000677.2:g.48929304_48929306del	GRCh38
NC_000015.9:g.49221501_49221503del , CM000677.1:g.49221501_49221503del	GRCh37
NC_000015.8:g.47008793_47008795del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332408.9:c.586-4355_586-4353del MANE Select	ENSP00000329668.4:n.586-4355_586-4353del
ENST00000332408.8:c.586-4355_586-4353del	ENSP00000329668.4:n.586-4355_586-4353del
NM_203349.3:c.586-4355_586-4353del	NP_976224.3:n.586-4355_586-4353del
XM_005254375.2:c.37-4355_37-4353del	XP_005254432.1:n.37-4355_37-4353del
XM_011521552.1:c.-3-4355_-3-4353del	XP_011519854.1:n.-3-4355_-3-4353del
XM_005254375.3:c.37-4355_37-4353del	XP_005254432.1:n.37-4355_37-4353del
NM_203349.4:c.586-4355_586-4353del MANE Select	NP_976224.3:n.586-4355_586-4353del