Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927873_168927875delinsCAT , CM000664.2:g.168927873_168927875delinsCAT	GRCh38
NC_000002.11:g.169784383_169784385delinsCAT , CM000664.1:g.169784383_169784385delinsCAT	GRCh37
NC_000002.10:g.169492629_169492631delinsCAT	NCBI36
NG_007374.1:g.108449_108451delinsATG
NG_007374.2:g.108522_108524delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1789-513_1789-511delinsATG	ENSP00000497165.1:n.1789-513_1789-511delinsATG
ENST00000650372.1:c.3412-513_3412-511delinsATG MANE Select	ENSP00000497931.1:n.3412-513_3412-511delinsATG
ENST00000263817.6:c.3412-513_3412-511delinsATG	ENSP00000263817.6:n.3412-513_3412-511delinsATG
ENST00000439188.1:c.2101-585_2101-583delinsATG	ENSP00000416058.1:n.2101-585_2101-583delinsATG
NM_003742.2:c.3412-513_3412-511delinsATG	NP_003733.2:n.3412-513_3412-511delinsATG
XM_006712817.2:c.3454-513_3454-511delinsATG	XP_006712880.1:n.3454-513_3454-511delinsATG
XM_011512077.1:c.3514-513_3514-511delinsATG	XP_011510379.1:n.3514-513_3514-511delinsATG
XM_011512078.1:c.3514-513_3514-511delinsATG	XP_011510380.1:n.3514-513_3514-511delinsATG
XM_011512079.1:c.3514-513_3514-511delinsATG	XP_011510381.1:n.3514-513_3514-511delinsATG
XM_011512081.1:c.1738-513_1738-511delinsATG	XP_011510383.1:n.1738-513_1738-511delinsATG
NM_003742.4:c.3412-513_3412-511delinsATG MANE Select	NP_003733.2:n.3412-513_3412-511delinsATG
XM_006712817.3:c.3454-513_3454-511delinsATG	XP_006712880.1:n.3454-513_3454-511delinsATG
XM_011512077.2:c.3514-513_3514-511delinsATG	XP_011510379.1:n.3514-513_3514-511delinsATG
XM_011512078.2:c.3514-513_3514-511delinsATG	XP_011510380.1:n.3514-513_3514-511delinsATG
XM_011512081.2:c.1738-513_1738-511delinsATG	XP_011510383.1:n.1738-513_1738-511delinsATG
XM_017005165.1:c.3514-513_3514-511delinsATG	XP_016860654.1:n.3514-513_3514-511delinsATG
XM_017005166.1:c.2743-513_2743-511delinsATG	XP_016860655.1:n.2743-513_2743-511delinsATG
XM_017005167.1:c.2197-513_2197-511delinsATG	XP_016860656.1:n.2197-513_2197-511delinsATG