Canonical Allele Identifier: CA198545298

Gene: ALAD

Linked Data

• dbSNP Id: rs566527551
• gnomAD v3: 9-113388794-TTGCTTCACCGGGCCGTGTTC-T
• gnomAD v4: 9-113388794-TTGCTTCACCGGGCCGTGTTC-T
• MyVariant Identifiers: chr9:g.116151075_116151094del (hg19) ; chr9:g.113388795_113388814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388796_113388815del , CM000671.2:g.113388796_113388815del	GRCh38
NC_000009.11:g.116151076_116151095del , CM000671.1:g.116151076_116151095del	GRCh37
NC_000009.10:g.115190897_115190916del	NCBI36
NG_008716.1:g.17525_17544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+163_931+182del MANE Select	ENSP00000386284.3:n.931+163_931+182del
ENST00000409155.7:c.931+163_931+182del	ENSP00000386284.3:n.931+163_931+182del
ENST00000482847.5:n.1204+163_1204+182del
NM_000031.5:c.931+163_931+182del	NP_000022.3:n.931+163_931+182del
XM_005251799.1:c.1018+163_1018+182del	XP_005251856.1:n.1018+163_1018+182del
XM_011518363.1:c.1057+163_1057+182del	XP_011516665.1:n.1057+163_1057+182del
XM_011518364.1:c.958+163_958+182del	XP_011516666.1:n.958+163_958+182del
NM_001003945.2:c.1018+163_1018+182del	NP_001003945.1:n.1018+163_1018+182del
NM_001317745.1:c.907+163_907+182del	NP_001304674.1:n.907+163_907+182del
XM_011518364.2:c.958+163_958+182del	XP_011516666.1:n.958+163_958+182del
XM_024447449.1:c.1018+163_1018+182del	XP_024303217.1:n.1018+163_1018+182del
NM_000031.6:c.931+163_931+182del MANE Select	NP_000022.3:n.931+163_931+182del
NM_001003945.3:c.1018+163_1018+182del	NP_001003945.1:n.1018+163_1018+182del
NM_001317745.2:c.907+163_907+182del	NP_001304674.1:n.907+163_907+182del