Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579760_132579763delinsCATT , CM000667.2:g.132579760_132579763delinsCATT	GRCh38
NC_000005.9:g.131915452_131915455delinsCATT , CM000667.1:g.131915452_131915455delinsCATT	GRCh37
NC_000005.8:g.131943351_131943354delinsCATT	NCBI36
NG_021151.1:g.27837_27840delinsCATT
NG_021151.2:g.27784_27787delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.552-102_552-99delinsCATT MANE Select	ENSP00000368100.4:n.552-102_552-99delinsCATT
ENST00000638452.2:c.255-102_255-99delinsCATT	ENSP00000492349.2:n.255-102_255-99delinsCATT
ENST00000638504.1:n.442+3832_442+3835delinsCATT
ENST00000638568.2:c.255-102_255-99delinsCATT	ENSP00000491158.2:n.255-102_255-99delinsCATT
ENST00000639899.1:n.969_972delinsCATT
ENST00000640655.2:c.255-102_255-99delinsCATT	ENSP00000491596.2:n.255-102_255-99delinsCATT
ENST00000651160.1:c.552-102_552-99delinsCATT	ENSP00000498829.1:n.552-102_552-99delinsCATT
ENST00000651541.1:c.255-102_255-99delinsCATT	ENSP00000498795.1:n.255-102_255-99delinsCATT
ENST00000651658.1:n.877_880delinsCATT
ENST00000651723.1:c.635-102_635-99delinsCATT	ENSP00000498237.1:n.635-102_635-99delinsCATT
ENST00000652016.1:c.552-102_552-99delinsCATT	ENSP00000498267.1:n.552-102_552-99delinsCATT
ENST00000652485.1:c.552-102_552-99delinsCATT	ENSP00000498973.1:n.552-102_552-99delinsCATT
ENST00000378823.7:c.552-102_552-99delinsCATT	ENSP00000368100.4:n.552-102_552-99delinsCATT
ENST00000416135.5:c.255-102_255-99delinsCATT	ENSP00000389515.1:n.255-102_255-99delinsCATT
ENST00000423956.5:c.552-102_552-99delinsCATT	ENSP00000390971.1:n.552-102_552-99delinsCATT
ENST00000453394.5:c.552-102_552-99delinsCATT	ENSP00000400049.1:n.552-102_552-99delinsCATT
ENST00000487596.1:n.16_19delinsCATT
ENST00000533482.5:c.178-102_178-99delinsCATT	ENSP00000431225.1:n.178-102_178-99delinsCATT
NM_005732.3:c.552-102_552-99delinsCATT	NP_005723.2:n.552-102_552-99delinsCATT
NM_005732.4:c.552-102_552-99delinsCATT MANE Select	NP_005723.2:n.552-102_552-99delinsCATT