Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27960418A>G , CM000677.2:g.27960418A>G	GRCh38
NC_000015.9:g.28205564A>G , CM000677.1:g.28205564A>G	GRCh37
NC_000015.8:g.25879159A>G	NCBI36
NG_009846.1:g.143895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1637-2683T>C MANE Select	ENSP00000346659.3:n.1637-2683T>C
ENST00000353809.9:c.1565-2683T>C	ENSP00000261276.8:n.1565-2683T>C
ENST00000354638.7:c.1637-2683T>C	ENSP00000346659.3:n.1637-2683T>C
NM_000275.2:c.1637-2683T>C	NP_000266.2:n.1637-2683T>C
NM_001300984.1:c.1565-2683T>C	NP_001287913.1:n.1565-2683T>C
XM_011521639.1:c.1661-2683T>C	XP_011519941.1:n.1661-2683T>C
XM_011521640.1:c.1637-2683T>C	XP_011519942.1:n.1637-2683T>C
XM_011521641.1:c.1661-2683T>C	XP_011519943.1:n.1661-2683T>C
XM_011521642.1:c.1589-2683T>C	XP_011519944.1:n.1589-2683T>C
XM_011521643.1:c.1589-2683T>C	XP_011519945.1:n.1589-2683T>C
XM_011521644.1:c.1523-2683T>C	XP_011519946.1:n.1523-2683T>C
XM_011521645.1:c.1661-2683T>C	XP_011519947.1:n.1661-2683T>C
XM_011521646.1:c.1661-2683T>C	XP_011519948.1:n.1661-2683T>C
XM_011521647.1:c.1661-2683T>C	XP_011519949.1:n.1661-2683T>C
XR_931843.1:n.3022-113T>C
XM_011521640.2:c.1637-2683T>C	XP_011519942.1:n.1637-2683T>C
XM_017022255.1:c.1661-2683T>C	XP_016877744.1:n.1661-2683T>C
XM_017022256.1:c.1661-2683T>C	XP_016877745.1:n.1661-2683T>C
XM_017022257.1:c.1589-2683T>C	XP_016877746.1:n.1589-2683T>C
XM_017022258.1:c.1661-2683T>C	XP_016877747.1:n.1661-2683T>C
XM_017022259.1:c.1589-2683T>C	XP_016877748.1:n.1589-2683T>C
XM_017022260.1:c.1523-2683T>C	XP_016877749.1:n.1523-2683T>C
XM_017022261.1:c.1466-2683T>C	XP_016877750.1:n.1466-2683T>C
XM_017022262.1:c.1661-2683T>C	XP_016877751.1:n.1661-2683T>C
XM_017022263.1:c.1661-2683T>C	XP_016877752.1:n.1661-2683T>C
XM_017022264.1:c.1661-2683T>C	XP_016877753.1:n.1661-2683T>C
XM_017022265.1:c.1661-2683T>C	XP_016877754.1:n.1661-2683T>C
XR_001751294.1:n.1750-113T>C
NM_000275.3:c.1637-2683T>C MANE Select	NP_000266.2:n.1637-2683T>C
NM_001300984.2:c.1565-2683T>C	NP_001287913.1:n.1565-2683T>C