Canonical Allele Identifier: CA859929195

Gene: SCAI

Linked Data

• dbSNP Id: rs1195764521
• gnomAD v4: 9-124968192-TGAAAAACAAAAAAC-T
• MyVariant Identifiers: chr9:g.127730472_127730485del (hg19) ; chr9:g.124968193_124968206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124968206_124968219del , CM000671.2:g.124968206_124968219del	GRCh38
NC_000009.11:g.127730485_127730498del , CM000671.1:g.127730485_127730498del	GRCh37
NC_000009.10:g.126770306_126770319del	NCBI36
NG_016620.1:g.180354_180367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336505.11:c.1674+3164_1674+3177del MANE Select	ENSP00000336756.6:n.1674+3164_1674+3177del
ENST00000336505.10:c.1674+3164_1674+3177del	ENSP00000336756.5:n.1674+3164_1674+3177del
ENST00000373549.8:c.1743+3164_1743+3177del	ENSP00000362650.4:n.1743+3164_1743+3177del
ENST00000467917.5:c.606+3164_606+3177del
ENST00000477186.5:c.*119+3164_*119+3177del	ENSP00000419576.1:n.*119+3164_*119+3177del
NM_001144877.2:c.1674+3164_1674+3177del	NP_001138349.1:n.1674+3164_1674+3177del
NM_173690.4:c.1743+3164_1743+3177del	NP_775961.2:n.1743+3164_1743+3177del
XR_929767.1:n.1945+3164_1945+3177del
NM_001144877.3:c.1674+3164_1674+3177del MANE Select	NP_001138349.1:n.1674+3164_1674+3177del
NM_173690.5:c.1743+3164_1743+3177del	NP_775961.2:n.1743+3164_1743+3177del