Canonical Allele Identifier: CA2597237016

Gene: GNAT1

Linked Data

• gnomAD v3: 3-50193248-GCTCTCCT-G
• gnomAD v4: 3-50193248-GCTCTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193250_50193256del , CM000665.2:g.50193250_50193256del	GRCh38
NC_000003.11:g.50230683_50230689del , CM000665.1:g.50230683_50230689del	GRCh37
NC_000003.10:g.50205687_50205693del	NCBI36
NG_009831.1:g.6641_6647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.150-15_150-9del MANE Select	ENSP00000232461.3:n.150-15_150-9del
ENST00000232461.7:c.150-15_150-9del	ENSP00000232461.3:n.150-15_150-9del
ENST00000433068.5:c.150-15_150-9del	ENSP00000387555.1:n.150-15_150-9del
ENST00000440836.1:c.6-15_6-9del	ENSP00000403537.1:n.6-15_6-9del
NM_000172.3:c.150-15_150-9del	NP_000163.2:n.150-15_150-9del
NM_144499.2:c.150-15_150-9del	NP_653082.1:n.150-15_150-9del
XM_011533595.1:c.6-15_6-9del	XP_011531897.1:n.6-15_6-9del
XM_011533596.1:c.6-15_6-9del	XP_011531898.1:n.6-15_6-9del
XR_940416.1:n.430-15_430-9del
NM_000172.4:c.150-15_150-9del	NP_000163.2:n.150-15_150-9del
NM_144499.3:c.150-15_150-9del MANE Select	NP_653082.1:n.150-15_150-9del