Canonical Allele Identifier: CA2582801204

Gene: NACC1

Linked Data

• gnomAD v4: 19-13135510-G-GGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13135510_13135511insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT , CM000681.2:g.13135510_13135511insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	GRCh38
NC_000019.9:g.13246324_13246325insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT , CM000681.1:g.13246324_13246325insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	GRCh37
NC_000019.8:g.13107324_13107325insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	ENSP00000467120.2:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
ENST00000700232.1:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	ENSP00000514870.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
ENST00000292431.5:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT MANE Select	ENSP00000292431.3:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
ENST00000586171.2:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	ENSP00000467120.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
ENST00000292431.4:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	ENSP00000292431.3:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
ENST00000586171.1:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	ENSP00000467120.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgG...
NM_052876.3:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	NP_443108.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgGlyThrC...
XM_005259721.2:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	XP_005259778.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgGlyT...
XM_005259721.3:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT	XP_005259778.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgGlyT...
NM_052876.4:c.303_304insGCTGTGACCAGGGGAAAAGGAAGAGGAACCTGTCGGCACAGGGAGGGGTCATCTTCACAACAT MANE Select	NP_443108.1:p.Met101_Tyr102insAlaValThrArgGlyLysGlyArgGlyThrC...