Canonical Allele Identifier: CA735697548

Gene: PPT1

Linked Data

• dbSNP Id: rs1355063755
• gnomAD v4: 1-40097304-G-GCGC
• MyVariant Identifiers: chr1:g.40562976_40562977insCGC (hg19) ; chr1:g.40097304_40097305insCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097310_40097312dup , CM000663.2:g.40097310_40097312dup	GRCh38
NC_000001.10:g.40562982_40562984dup , CM000663.1:g.40562982_40562984dup	GRCh37
NC_000001.9:g.40335569_40335571dup	NCBI36
NG_009192.1:g.5164_5166dup , LRG_690:g.5164_5166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-69_-67dup	ENSP00000394863.3:n.-69_-67dup
NM_000310.3:c.-69_-67dup , LRG_690t1:c.-69_-67dup	NP_000301.1:n.-69_-67dup
NM_001142604.1:c.-69_-67dup	NP_001136076.1:n.-69_-67dup
NM_001363695.1:c.-69_-67dup	NP_001350624.1:n.-69_-67dup