Canonical Allele Identifier: CA1139013277

Gene: RFTN1P1

Linked Data

• dbSNP Id: rs2014172537
• gnomAD v3: Y-7718739-TATAA-T
• gnomAD v4: Y-7718739-TATAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7718743_7718746del , CM000686.2:g.7718743_7718746del	GRCh38
NC_000024.9:g.7586784_7586787del , CM000686.1:g.7586784_7586787del	GRCh37
NC_000024.8:g.7646784_7646787del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.299-5646_299-5643del
ENST00000455527.5:n.883+3113_883+3116del