Canonical Allele Identifier: CA2756206780
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193415_50193487del , CM000665.2:g.50193415_50193487del GRCh38
NC_000003.11:g.50230848_50230920del , CM000665.1:g.50230848_50230920del GRCh37
NC_000003.10:g.50205852_50205924del NCBI36
NG_009831.1:g.6806_6878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.291+9_292-19del MANE Select ENSP00000232461.3:n.291+9_292-19del
ENST00000232461.7:c.291+9_292-19del ENSP00000232461.3:n.291+9_292-19del
ENST00000433068.5:c.291+9_292-19del ENSP00000387555.1:n.291+9_292-19del
ENST00000440836.1:c.147+9_148-19del ENSP00000403537.1:n.147+9_148-19del
NM_000172.3:c.291+9_292-19del NP_000163.2:n.291+9_292-19del
NM_144499.2:c.291+9_292-19del NP_653082.1:n.291+9_292-19del
XM_011533595.1:c.147+9_148-19del XP_011531897.1:n.147+9_148-19del
XM_011533596.1:c.147+9_148-19del XP_011531898.1:n.147+9_148-19del
XR_940416.1:n.571+9_572-19del
NM_000172.4:c.291+9_292-19del NP_000163.2:n.291+9_292-19del
NM_144499.3:c.291+9_292-19del MANE Select NP_653082.1:n.291+9_292-19del