Canonical Allele Identifier: CA2091422

Gene: ABCA12

Linked Data

• dbSNP Id: rs776471573
• ExAC: 2:215845301 A / AGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT
• MyVariant Identifiers: chr2:g.215845301_215845302insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT (hg19) ; chr2:g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT , CM000664.2:g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT	GRCh38
NC_000002.11:g.215845301_215845302insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT , CM000664.1:g.215845301_215845302insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT	GRCh37
NC_000002.10:g.215553546_215553547insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTT	NCBI36
NG_007074.1:g.162850_162851insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC MANE Select	ENSP00000272895.7:p.Phe1549Ter
ENST00000272895.11:c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	ENSP00000272895.7:p.Phe1549Ter
ENST00000389661.4:c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	ENSP00000374312.4:p.Phe1231Ter
NM_015657.3:c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	NP_056472.2:p.Phe1231Ter
NM_173076.2:c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	NP_775099.2:p.Phe1549Ter
NR_103740.1:n.4945_4946insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
XM_011510951.1:c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	XP_011509253.1:p.Phe1552Ter
XM_011510952.1:c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	XP_011509254.1:p.Phe1552Ter
XM_011510951.2:c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	XP_011509253.1:p.Phe1552Ter
NM_173076.3:c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC MANE Select	NP_775099.2:p.Phe1549Ter
NR_103740.2:n.5143_5144insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
NM_015657.4:c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC	NP_056472.2:p.Phe1231Ter