Canonical Allele Identifier: CA1070838756

Gene: AADAT

Linked Data

• dbSNP Id: rs1731916822
• gnomAD v3: 4-170073976-CTA-C
• gnomAD v4: 4-170073976-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.170073978_170073979del , CM000666.2:g.170073978_170073979del	GRCh38
NC_000004.11:g.170995129_170995130del , CM000666.1:g.170995129_170995130del	GRCh37
NC_000004.10:g.171231704_171231705del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337664.9:c.445-633_445-632del MANE Select	ENSP00000336808.4:n.445-633_445-632del
ENST00000337664.8:c.445-633_445-632del	ENSP00000336808.4:n.445-633_445-632del
ENST00000353187.6:c.445-633_445-632del	ENSP00000226840.4:n.445-633_445-632del
ENST00000502392.1:c.445-633_445-632del	ENSP00000423843.1:n.445-633_445-632del
ENST00000505906.1:n.244-633_244-632del
ENST00000507375.5:c.445-633_445-632del	ENSP00000421389.1:n.445-633_445-632del
ENST00000509167.5:c.457-633_457-632del	ENSP00000423190.1:n.457-633_457-632del
ENST00000510340.5:c.418-633_418-632del	ENSP00000425067.1:n.418-633_418-632del
ENST00000515480.5:c.445-633_445-632del	ENSP00000423341.1:n.445-633_445-632del
NM_001286682.1:c.457-633_457-632del	NP_001273611.1:n.457-633_457-632del
NM_001286683.1:c.445-633_445-632del	NP_001273612.1:n.445-633_445-632del
NM_016228.3:c.445-633_445-632del	NP_057312.1:n.445-633_445-632del
NM_182662.1:c.445-633_445-632del	NP_872603.1:n.445-633_445-632del
XM_006714231.2:c.562-633_562-632del	XP_006714294.1:n.562-633_562-632del
XM_011532020.1:c.100-633_100-632del	XP_011530322.1:n.100-633_100-632del
XM_011532020.2:c.100-633_100-632del	XP_011530322.1:n.100-633_100-632del
XM_024454077.1:c.445-633_445-632del	XP_024309845.1:n.445-633_445-632del
NM_016228.4:c.445-633_445-632del MANE Select	NP_057312.1:n.445-633_445-632del
NM_001286682.2:c.457-633_457-632del	NP_001273611.1:n.457-633_457-632del
NM_182662.2:c.445-633_445-632del	NP_872603.1:n.445-633_445-632del