Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886058_11886059insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA , CM000674.2:g.11886058_11886059insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	GRCh38
NC_000012.11:g.12038992_12038993insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA , CM000674.1:g.12038992_12038993insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	GRCh37
NC_000012.10:g.11930259_11930260insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	NCBI36
NG_011443.1:g.241205_241206insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA , LRG_609:g.241205_241206insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA MANE Select	ENSP00000379658.3:n.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCAT...
ENST00000266427.3:c.90+32_90+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA
ENST00000396373.8:c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	ENSP00000379658.3:n.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCAT...
NM_001987.4:c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA , LRG_609t1:c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	NP_001978.1:n.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATT...
XM_011520607.1:c.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518909.1:n.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGT...
XM_011520608.1:c.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518910.1:n.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGT...
XM_011520609.1:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518911.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520610.1:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518912.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520611.1:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518913.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520612.1:c.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518914.1:n.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520607.2:c.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518909.1:n.1250+32_1250+33insAAACCTGCTTTATCTTTTCCCATAGT...
XM_011520608.2:c.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518910.1:n.1226+32_1226+33insAAACCTGCTTTATCTTTTCCCATAGT...
XM_011520609.2:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518911.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520611.2:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518913.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_011520612.2:c.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_011518914.1:n.632+32_632+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
XM_017018990.1:c.1118+32_1118+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_016874479.1:n.1118+32_1118+33insAAACCTGCTTTATCTTTTCCCATAGT...
XM_017018991.1:c.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA	XP_016874480.1:n.989+32_989+33insAAACCTGCTTTATCTTTTCCCATAGTAT...
NM_001987.5:c.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATTTCTTCATCTAACATATTACAAAGA MANE Select	NP_001978.1:n.1253+32_1253+33insAAACCTGCTTTATCTTTTCCCATAGTATT...