Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31093697_31093698insGCTT , CM000678.2:g.31093697_31093698insGCTT	GRCh38
NC_000016.9:g.31105018_31105019insGCTT , CM000678.1:g.31105018_31105019insGCTT	GRCh37
NC_000016.8:g.31012519_31012520insGCTT	NCBI36
NG_011564.1:g.6258_6259insAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.174-277_174-276insAAGC MANE Select	ENSP00000378426.2:n.174-277_174-276insAAGC
ENST00000300851.10:c.174-216_174-215insAAGC	ENSP00000300851.6:n.174-216_174-215insAAGC
ENST00000319788.11:c.174-277_174-276insAAGC	ENSP00000326135.7:n.174-277_174-276insAAGC
ENST00000354895.4:c.173+859_173+860insAAGC	ENSP00000346969.4:n.173+859_173+860insAAGC
ENST00000394971.7:c.268-277_268-276insAAGC	ENSP00000378422.3:n.268-277_268-276insAAGC
ENST00000394975.2:c.174-277_174-276insAAGC	ENSP00000378426.2:n.174-277_174-276insAAGC
ENST00000420057.2:c.245+1691_245+1692insAAGC
ENST00000498155.1:c.271-277_271-276insAAGC	ENSP00000417662.1:n.271-277_271-276insAAGC
ENST00000529564.1:c.174-277_174-276insAAGC	ENSP00000431371.1:n.174-277_174-276insAAGC
ENST00000532364.1:c.173+859_173+860insAAGC	ENSP00000460316.1:n.173+859_173+860insAAGC
ENST00000533518.5:c.47-277_47-276insAAGC
NM_001311311.1:c.174-277_174-276insAAGC	NP_001298240.1:n.174-277_174-276insAAGC
NM_024006.4:c.174-277_174-276insAAGC	NP_076869.1:n.174-277_174-276insAAGC
NM_024006.5:c.174-277_174-276insAAGC	NP_076869.1:n.174-277_174-276insAAGC
NM_206824.1:c.173+859_173+860insAAGC	NP_996560.1:n.173+859_173+860insAAGC
NM_206824.2:c.173+859_173+860insAAGC	NP_996560.1:n.173+859_173+860insAAGC
XM_011545944.1:c.174-277_174-276insAAGC	XP_011544246.1:n.174-277_174-276insAAGC
XM_011545945.1:c.173+859_173+860insAAGC	XP_011544247.1:n.173+859_173+860insAAGC
XR_950848.1:n.962-277_962-276insAAGC
NM_024006.6:c.174-277_174-276insAAGC MANE Select	NP_076869.1:n.174-277_174-276insAAGC
NM_001311311.2:c.174-277_174-276insAAGC	NP_001298240.1:n.174-277_174-276insAAGC
NM_206824.3:c.173+859_173+860insAAGC	NP_996560.1:n.173+859_173+860insAAGC