Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.28018050_28018054delinsCATTT , CM000675.2:g.28018050_28018054delinsCATTT	GRCh38
NC_000013.10:g.28592187_28592191delinsCATTT , CM000675.1:g.28592187_28592191delinsCATTT	GRCh37
NC_000013.9:g.27490187_27490191delinsCATTT	NCBI36
NG_007066.1:g.87515_87519delinsAAATG , LRG_457:g.87515_87519delinsAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241453.12:c.2541+413_2541+417delinsAAATG MANE Select	ENSP00000241453.7:n.2541+413_2541+417delinsAAATG
ENST00000241453.11:c.2541+413_2541+417delinsAAATG	ENSP00000241453.7:n.2541+413_2541+417delinsAAATG
ENST00000380987.2:c.453+413_453+417delinsAAATG	ENSP00000370374.2:n.453+413_453+417delinsAAATG
NM_004119.2:c.2541+413_2541+417delinsAAATG , LRG_457t1:c.2541+413_2541+417delinsAAATG	NP_004110.2:n.2541+413_2541+417delinsAAATG
NR_130706.1:n.2755+413_2755+417delinsAAATG
XM_011535015.1:c.2484+413_2484+417delinsAAATG	XP_011533317.1:n.2484+413_2484+417delinsAAATG
XM_011535016.1:c.2016+413_2016+417delinsAAATG	XP_011533318.1:n.2016+413_2016+417delinsAAATG
XM_011535017.1:c.2016+413_2016+417delinsAAATG	XP_011533319.1:n.2016+413_2016+417delinsAAATG
XM_011535018.1:c.2016+413_2016+417delinsAAATG	XP_011533320.1:n.2016+413_2016+417delinsAAATG
XM_011535015.2:c.2484+413_2484+417delinsAAATG	XP_011533317.1:n.2484+413_2484+417delinsAAATG
XM_011535017.2:c.2016+413_2016+417delinsAAATG	XP_011533319.1:n.2016+413_2016+417delinsAAATG
XM_011535018.2:c.2016+413_2016+417delinsAAATG	XP_011533320.1:n.2016+413_2016+417delinsAAATG
XM_017020486.1:c.2325+413_2325+417delinsAAATG	XP_016875975.1:n.2325+413_2325+417delinsAAATG
XM_017020487.1:c.2016+413_2016+417delinsAAATG	XP_016875976.1:n.2016+413_2016+417delinsAAATG
XM_017020488.1:c.1662+413_1662+417delinsAAATG	XP_016875977.1:n.1662+413_1662+417delinsAAATG
XM_017020489.1:c.1644+413_1644+417delinsAAATG	XP_016875978.1:n.1644+413_1644+417delinsAAATG
NM_004119.3:c.2541+413_2541+417delinsAAATG MANE Select	NP_004110.2:n.2541+413_2541+417delinsAAATG
NR_130706.2:n.2739+413_2739+417delinsAAATG