Canonical Allele Identifier: CA617997002

Gene: SCG3

Linked Data

• dbSNP Id: rs1282461112
• gnomAD v2: 15-51974244-G-GCTTAAAGATCTTA
• gnomAD v3: 15-51682047-G-GCTTAAAGATCTTA
• gnomAD v4: 15-51682047-G-GCTTAAAGATCTTA
• MyVariant Identifiers: chr15:g.51974244_51974245insCTTAAAGATCTTA (hg19) ; chr15:g.51682047_51682048insCTTAAAGATCTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51682047_51682048insCTTAAAGATCTTA , CM000677.2:g.51682047_51682048insCTTAAAGATCTTA	GRCh38
NC_000015.9:g.51974244_51974245insCTTAAAGATCTTA , CM000677.1:g.51974244_51974245insCTTAAAGATCTTA	GRCh37
NC_000015.8:g.49761536_49761537insCTTAAAGATCTTA	NCBI36
NG_013214.1:g.5695_5696insCTTAAAGATCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000220478.8:c.82+210_82+211insCTTAAAGATCTTA MANE Select	ENSP00000220478.3:n.82+210_82+211insCTTAAAGATCTTA
ENST00000220478.7:c.82+210_82+211insCTTAAAGATCTTA	ENSP00000220478.3:n.82+210_82+211insCTTAAAGATCTTA
ENST00000542355.6:c.-562+210_-562+211insCTTAAAGATCTTA	ENSP00000445205.2:n.-562+210_-562+211insCTTAAAGATCTTA
ENST00000558709.1:c.-419+210_-419+211insCTTAAAGATCTTA	ENSP00000452745.1:n.-419+210_-419+211insCTTAAAGATCTTA
NM_001165257.1:c.-562+210_-562+211insCTTAAAGATCTTA	NP_001158729.1:n.-562+210_-562+211insCTTAAAGATCTTA
NM_013243.3:c.82+210_82+211insCTTAAAGATCTTA	NP_037375.2:n.82+210_82+211insCTTAAAGATCTTA
NM_013243.4:c.82+210_82+211insCTTAAAGATCTTA MANE Select	NP_037375.2:n.82+210_82+211insCTTAAAGATCTTA
NM_001165257.2:c.-562+210_-562+211insCTTAAAGATCTTA	NP_001158729.1:n.-562+210_-562+211insCTTAAAGATCTTA