Canonical Allele Identifier: CA173519053

Gene: NAT2

Linked Data

• dbSNP Id: rs761429534
• gnomAD v2: 8-18250980-AAAAT-A
• gnomAD v3: 8-18393470-AAAAT-A
• gnomAD v4: 8-18393470-AAAAT-A
• MyVariant Identifiers: chr8:g.18250981_18250984del (hg19) ; chr8:g.18393471_18393474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393483_18393486del , CM000670.2:g.18393483_18393486del	GRCh38
NC_000008.10:g.18250993_18250996del , CM000670.1:g.18250993_18250996del	GRCh37
NC_000008.9:g.18295273_18295276del	NCBI36
NG_012246.1:g.7239_7242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2138_-7+2141del MANE Select	ENSP00000286479.3:n.-7+2138_-7+2141del
ENST00000286479.3:c.-7+2138_-7+2141del	ENSP00000286479.3:n.-7+2138_-7+2141del
ENST00000520116.1:c.-58+2138_-58+2141del	ENSP00000428416.1:n.-58+2138_-58+2141del
NM_000015.2:c.-7+2138_-7+2141del	NP_000006.2:n.-7+2138_-7+2141del
XM_011544358.1:c.-7+747_-7+750del	XP_011542660.1:n.-7+747_-7+750del
XM_017012938.1:c.-7+6447_-7+6450del	XP_016868427.1:n.-7+6447_-7+6450del
NM_000015.3:c.-7+2138_-7+2141del MANE Select	NP_000006.2:n.-7+2138_-7+2141del