Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531460_154531465delinsTATAGC , CM000685.2:g.154531460_154531465delinsTATAGC	GRCh38
NC_000023.10:g.153759675_153759680delinsTATAGC , CM000685.1:g.153759675_153759680delinsTATAGC	GRCh37
NC_000023.9:g.153412869_153412874delinsTATAGC	NCBI36
NG_009015.2:g.21108_21113delinsGCTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.535_540delinsGCTATA	ENSP00000377194.2:n.535_540delinsGCTATA
ENST00000439227.6:c.535_540delinsGCTATA	ENSP00000395599.2:n.535_540delinsGCTATA
ENST00000696420.1:c.1457+723_1457+728delinsGCTATA	ENSP00000512615.1:n.1457+723_1457+728delinsGCTATA
ENST00000696421.1:c.1457+723_1457+728delinsGCTATA	ENSP00000512616.1:n.1457+723_1457+728delinsGCTATA
ENST00000696422.1:c.1946_1951delinsGCTATA
ENST00000696423.1:c.1949_1954delinsGCTATA
ENST00000696424.1:c.1935_1940delinsGCTATA	ENSP00000512619.1:n.1935_1940delinsGCTATA
ENST00000696425.1:c.996_1001delinsGCTATA	ENSP00000512620.1:n.996_1001delinsGCTATA
ENST00000696426.1:c.1543_1548delinsGCTATA	ENSP00000512621.1:n.1543_1548delinsGCTATA
ENST00000696427.1:c.1043_1048delinsGCTATA	ENSP00000512622.1:n.1043_1048delinsGCTATA
ENST00000696428.1:c.1925_1930delinsGCTATA	ENSP00000512623.1:n.1925_1930delinsGCTATA
ENST00000696429.1:c.535_540delinsGCTATA	ENSP00000512624.1:n.535_540delinsGCTATA
ENST00000696430.1:c.535_540delinsGCTATA	ENSP00000512625.1:n.535_540delinsGCTATA
ENST00000393562.10:c.535_540delinsGCTATA MANE Select	ENSP00000377192.3:n.535_540delinsGCTATA
ENST00000393562.6:c.535_540delinsGCTATA	ENSP00000377192.2:n.535_540delinsGCTATA
ENST00000621232.4:c.535_540delinsGCTATA	ENSP00000483686.1:n.535_540delinsGCTATA
NM_000402.4:c.535_540delinsGCTATA	NP_000393.4:n.535_540delinsGCTATA
NM_001042351.2:c.535_540delinsGCTATA	NP_001035810.1:n.535_540delinsGCTATA
XM_005274657.2:c.535_540delinsGCTATA	XP_005274714.1:n.535_540delinsGCTATA
XM_005274658.2:c.535_540delinsGCTATA	XP_005274715.1:n.535_540delinsGCTATA
NM_001360016.2:c.535_540delinsGCTATA MANE Select	NP_001346945.1:n.535_540delinsGCTATA
NM_001042351.3:c.535_540delinsGCTATA	NP_001035810.1:n.535_540delinsGCTATA

HGVS	Amino-acid Change
ENST00000393564.7:c.535_540delinsGCTATA	ENSP00000377194.2:n.535_540delinsGCTATA
ENST00000439227.6:c.535_540delinsGCTATA	ENSP00000395599.2:n.535_540delinsGCTATA
ENST00000696420.1:c.1457+723_1457+728delinsGCTATA	ENSP00000512615.1:n.1457+723_1457+728delinsGCTATA
ENST00000696421.1:c.1457+723_1457+728delinsGCTATA	ENSP00000512616.1:n.1457+723_1457+728delinsGCTATA
ENST00000696422.1:c.1946_1951delinsGCTATA
ENST00000696423.1:c.1949_1954delinsGCTATA
ENST00000696424.1:c.1935_1940delinsGCTATA	ENSP00000512619.1:n.1935_1940delinsGCTATA
ENST00000696425.1:c.996_1001delinsGCTATA	ENSP00000512620.1:n.996_1001delinsGCTATA
ENST00000696426.1:c.1543_1548delinsGCTATA	ENSP00000512621.1:n.1543_1548delinsGCTATA
ENST00000696427.1:c.1043_1048delinsGCTATA	ENSP00000512622.1:n.1043_1048delinsGCTATA
ENST00000696428.1:c.1925_1930delinsGCTATA	ENSP00000512623.1:n.1925_1930delinsGCTATA
ENST00000696429.1:c.535_540delinsGCTATA	ENSP00000512624.1:n.535_540delinsGCTATA
ENST00000696430.1:c.535_540delinsGCTATA	ENSP00000512625.1:n.535_540delinsGCTATA
ENST00000393562.10:c.535_540delinsGCTATA MANE Select	ENSP00000377192.3:n.535_540delinsGCTATA
ENST00000393562.6:c.535_540delinsGCTATA	ENSP00000377192.2:n.535_540delinsGCTATA
ENST00000621232.4:c.535_540delinsGCTATA	ENSP00000483686.1:n.535_540delinsGCTATA
NM_000402.4:c.535_540delinsGCTATA	NP_000393.4:n.535_540delinsGCTATA
NM_001042351.2:c.535_540delinsGCTATA	NP_001035810.1:n.535_540delinsGCTATA
XM_005274657.2:c.535_540delinsGCTATA	XP_005274714.1:n.535_540delinsGCTATA
XM_005274658.2:c.535_540delinsGCTATA	XP_005274715.1:n.535_540delinsGCTATA
NM_001360016.2:c.535_540delinsGCTATA MANE Select	NP_001346945.1:n.535_540delinsGCTATA
NM_001042351.3:c.535_540delinsGCTATA	NP_001035810.1:n.535_540delinsGCTATA